1-114442518-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442518
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442518
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1114+8T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.105+8T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.342+8T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1114+8T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.393A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.843T>C
  hgvsp: ENST00000369566.3:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.610+8T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+374T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1114+8T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-114442522-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442522
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+370G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1114+4G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.839G>T
  hgvsp: ENSP00000358579.3:p.Arg280Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.105+4G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.397C>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.610+4G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.342+4G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1114+4G>T
  variant of: http://identifiers.org/hgnc/572
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg280Met
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

1-114442531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442531
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1109C>T
  hgvsp: ENSP00000358582.1:p.Ala370Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.100C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.884C>T
  hgvsp: ENSP00000358577.1:p.Ala295Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.605C>T
  hgvsp: ENSP00000358580.1:p.Ala202Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1109C>T
  hgvsp: ENSP00000256658.4:p.Ala370Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.830C>T
  hgvsp: ENSP00000358579.3:p.Ala277Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.337C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.406G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+361C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 7.75e1
  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: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala370Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-114442538-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442538
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.877A>G
  hgvsp: ENSP00000358577.1:p.Ile293Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+354A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1102A>G
  hgvsp: ENSP00000358582.1:p.Ile368Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1102A>G
  hgvsp: ENSP00000256658.4:p.Ile368Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.598A>G
  hgvsp: ENSP00000358580.1:p.Ile200Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.330A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.823A>G
  hgvsp: ENSP00000358579.3:p.Ile275Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.93A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.413T>C
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile368Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS

1-114442545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442545
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442545
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.870G>A
  hgvsp: ENST00000369564.1:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.816G>A
  hgvsp: ENST00000369566.3:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1095G>A
  hgvsp: ENST00000369569.1:c.1095G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.420C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+347G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.591G>A
  hgvsp: ENST00000369567.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.86G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1095G>A
  hgvsp: ENST00000256658.4:c.1095G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.323G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln365Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-114442557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442557
    reference: chr 1
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.311G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.858G>A
  hgvsp: ENST00000369564.1:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.579G>A
  hgvsp: ENST00000369567.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+335G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.432C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1083G>A
  hgvsp: ENST00000369569.1:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1083G>A
  hgvsp: ENST00000256658.4:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.74G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.804G>A
  hgvsp: ENST00000369566.3:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala361Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-114442558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442558
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442558
    reference: chr 1
allele count: 16
allele frequency: 1.318000593100267e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.310C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.578C>T
  hgvsp: ENSP00000358580.1:p.Ala193Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.73C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1082C>T
  hgvsp: ENSP00000256658.4:p.Ala361Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.803C>T
  hgvsp: ENSP00000358579.3:p.Ala268Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.857C>T
  hgvsp: ENSP00000358577.1:p.Ala286Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+334C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1082C>T
  hgvsp: ENSP00000358582.1:p.Ala361Val
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.433G>A
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala361Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-114442563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442563
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.798G>A
  hgvsp: ENST00000369566.3:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.438C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1077G>A
  hgvsp: ENST00000369569.1:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.573G>A
  hgvsp: ENST00000369567.1:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+329G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.852G>A
  hgvsp: ENST00000369564.1:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1077G>A
  hgvsp: ENST00000256658.4:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.68G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.305G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val359Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-114442569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442569
    reference: chr 1
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.846G>A
  hgvsp: ENST00000369564.1:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1039G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1071G>A
  hgvsp: ENST00000369569.1:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1071G>A
  hgvsp: ENST00000256658.4:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.567G>A
  hgvsp: ENST00000369567.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+323G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.299G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.792G>A
  hgvsp: ENST00000369566.3:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.444C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.62G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr357Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-114442570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442570
    reference: chr 1
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.791C>T
  hgvsp: ENSP00000358579.3:p.Thr264Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.845C>T
  hgvsp: ENSP00000358577.1:p.Thr282Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.445G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.566C>T
  hgvsp: ENSP00000358580.1:p.Thr189Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1070C>T
  hgvsp: ENSP00000256658.4:p.Thr357Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.298C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1070C>T
  hgvsp: ENSP00000358582.1:p.Thr357Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.61C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1038C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+322C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr357Met
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-114442573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442573
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442573
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.842G>A
  hgvsp: ENSP00000358577.1:p.Cys281Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1067G>A
  hgvsp: ENSP00000256658.4:p.Cys356Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.58G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.563G>A
  hgvsp: ENSP00000358580.1:p.Cys188Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.295G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1035G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1067G>A
  hgvsp: ENSP00000358582.1:p.Cys356Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.788G>A
  hgvsp: ENSP00000358579.3:p.Cys263Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.448C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+319G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys356Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-114442576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442576
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1064A>G
  hgvsp: ENSP00000256658.4:p.Tyr355Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1032A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.292A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+316A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.451T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.55A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.839A>G
  hgvsp: ENSP00000358577.1:p.Tyr280Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.785A>G
  hgvsp: ENSP00000358579.3:p.Tyr262Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.560A>G
  hgvsp: ENSP00000358580.1:p.Tyr187Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1064A>G
  hgvsp: ENSP00000358582.1:p.Tyr355Cys
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr355Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-114442582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442582
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+310G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.554G>A
  hgvsp: ENSP00000358580.1:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.286G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.833G>A
  hgvsp: ENSP00000358577.1:p.Arg278Gln
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.779G>A
  hgvsp: ENSP00000358579.3:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1058G>A
  hgvsp: ENSP00000256658.4:p.Arg353Gln
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1026G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.49G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1058G>A
  hgvsp: ENSP00000358582.1:p.Arg353Gln
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.457C>T
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg353Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-114442583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442583
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442583
    reference: chr 1
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.458G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1057C>T
  hgvsp: ENSP00000256658.4:p.Arg353Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1025C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1057C>T
  hgvsp: ENSP00000358582.1:p.Arg353Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.832C>T
  hgvsp: ENSP00000358577.1:p.Arg278Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.778C>T
  hgvsp: ENSP00000358579.3:p.Arg260Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.285C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.553C>T
  hgvsp: ENSP00000358580.1:p.Arg185Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.48C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+309C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg353Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-114442585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442585
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.460A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1023T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.283T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.46T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.551T>C
  hgvsp: ENSP00000358580.1:p.Leu184Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1055T>C
  hgvsp: ENSP00000358582.1:p.Leu352Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.830T>C
  hgvsp: ENSP00000358577.1:p.Leu277Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1055T>C
  hgvsp: ENSP00000256658.4:p.Leu352Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+307T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.776T>C
  hgvsp: ENSP00000358579.3:p.Leu259Pro
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu352Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-114442593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442593
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.822A>G
  hgvsp: ENST00000369564.1:c.822A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.468T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+299A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.38A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1047A>G
  hgvsp: ENST00000256658.4:c.1047A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.768A>G
  hgvsp: ENST00000369566.3:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.543A>G
  hgvsp: ENST00000369567.1:c.543A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.275A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1047A>G
  hgvsp: ENST00000369569.1:c.1047A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1015A>G
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu349Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-114442596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442596
    reference: chr 1
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.471C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1044G>A
  hgvsp: ENST00000256658.4:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.819G>A
  hgvsp: ENST00000369564.1:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.540G>A
  hgvsp: ENST00000369567.1:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1012G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+296G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.35G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1044G>A
  hgvsp: ENST00000369569.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.272G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.765G>A
  hgvsp: ENST00000369566.3:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val348Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-114442597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442597
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.764T>C
  hgvsp: ENSP00000358579.3:p.Val255Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.818T>C
  hgvsp: ENSP00000358577.1:p.Val273Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+295T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.34T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1043T>C
  hgvsp: ENSP00000358582.1:p.Val348Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1043T>C
  hgvsp: ENSP00000256658.4:p.Val348Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1011T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.472A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.539T>C
  hgvsp: ENSP00000358580.1:p.Val180Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.271T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val348Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-114442598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442598
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.473C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.817G>A
  hgvsp: ENSP00000358577.1:p.Val273Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1042G>A
  hgvsp: ENSP00000256658.4:p.Val348Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1042G>A
  hgvsp: ENSP00000358582.1:p.Val348Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.270G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.538G>A
  hgvsp: ENSP00000358580.1:p.Val180Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.763G>A
  hgvsp: ENSP00000358579.3:p.Val255Met
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+294G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1010G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.33G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val348Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-114442604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442604
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1004C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.757C>T
  hgvsp: ENSP00000358579.3:p.Gln253Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1036C>T
  hgvsp: ENSP00000358582.1:p.Gln346Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.532C>T
  hgvsp: ENSP00000358580.1:p.Gln178Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1036C>T
  hgvsp: ENSP00000256658.4:p.Gln346Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.264C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.811C>T
  hgvsp: ENSP00000358577.1:p.Gln271Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+288C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.27C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.479G>A
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11894
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln346Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

1-114442608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442608
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.807T>C
  hgvsp: ENST00000369564.1:c.807T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.23T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.528T>C
  hgvsp: ENST00000369567.1:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+284T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1032T>C
  hgvsp: ENST00000256658.4:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1032T>C
  hgvsp: ENST00000369569.1:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.483A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.1000T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.260T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.753T>C
  hgvsp: ENST00000369566.3:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn344Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-114442610-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442610
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442610
    reference: chr 1
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.258A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.485T>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.526A>C
  hgvsp: ENST00000432415.1:c.526A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.526A>C
  hgvsp: ENSP00000358580.1:p.Asn176His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+282A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.998A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.21A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.751A>C
  hgvsp: ENSP00000358579.3:p.Asn251His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.805A>C
  hgvsp: ENSP00000358577.1:p.Asn269His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1030A>C
  hgvsp: ENSP00000256658.4:p.Asn344His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1030A>C
  hgvsp: ENSP00000358582.1:p.Asn344His
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn344His
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-114442611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442611
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1029G>C
  hgvsp: ENSP00000358582.1:p.Glu343Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.997G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.525G>C
  hgvsp: ENSP00000358580.1:p.Glu175Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1029G>C
  hgvsp: ENSP00000256658.4:p.Glu343Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.525G>C
  hgvsp: ENSP00000393622.1:p.Glu175Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.804G>C
  hgvsp: ENSP00000358577.1:p.Glu268Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.486C>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+281G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.750G>C
  hgvsp: ENSP00000358579.3:p.Glu250Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.257G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.20G>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu343Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-114442612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442612
    reference: chr 1
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.996A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.803A>C
  hgvsp: ENSP00000358577.1:p.Glu268Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.749A>C
  hgvsp: ENSP00000358579.3:p.Glu250Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.19A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.524A>C
  hgvsp: ENSP00000358580.1:p.Glu175Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1028A>C
  hgvsp: ENSP00000358582.1:p.Glu343Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1028A>C
  hgvsp: ENSP00000256658.4:p.Glu343Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.524A>C
  hgvsp: ENSP00000393622.1:p.Glu175Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.487T>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+280A>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.256A>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu343Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-114442616-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442616
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.520G>T
  hgvsp: ENSP00000393622.1:p.Asp174Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.992G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.520G>T
  hgvsp: ENSP00000358580.1:p.Asp174Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1024G>T
  hgvsp: ENSP00000358582.1:p.Asp342Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.252G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1024G>T
  hgvsp: ENSP00000256658.4:p.Asp342Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.15G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.745G>T
  hgvsp: ENSP00000358579.3:p.Asp249Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.799G>T
  hgvsp: ENSP00000358577.1:p.Asp267Tyr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.491C>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+276G>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp342Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-114442616-CGTTCACCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442608
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.512_519delTGGTGAAC
  hgvsp: ENSP00000393622.1:p.Leu171ArgfsTer2
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.7_14delTGGTGAAC
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsp: ENSP00000358582.1:p.Leu339ArgfsTer2
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.244_251delTGGTGAAC
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.737_744delTGGTGAAC
  hgvsp: ENSP00000358579.3:p.Leu246ArgfsTer2
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsp: ENSP00000256658.4:p.Leu339ArgfsTer2
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.512_519delTGGTGAAC
  hgvsp: ENSP00000358580.1:p.Leu171ArgfsTer2
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.984_991delTGGTGAAC
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.498_505delCAGTTCAC
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.791_798delTGGTGAAC
  hgvsp: ENSP00000358577.1:p.Leu264ArgfsTer2
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu339ArgfsTer2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: CGTTCACCA
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-114442617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442617
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1023C>T
  hgvsp: ENST00000256658.4:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.519C>T
  hgvsp: ENST00000432415.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+275C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.519C>T
  hgvsp: ENST00000369567.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.991C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.798C>T
  hgvsp: ENST00000369564.1:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.744C>T
  hgvsp: ENST00000369566.3:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1023C>T
  hgvsp: ENST00000369569.1:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.14C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.492G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.251C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn341Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-114442617-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442617
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.492G>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.744C>A
  hgvsp: ENSP00000358579.3:p.Asn248Lys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+275C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.991C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.798C>A
  hgvsp: ENSP00000358577.1:p.Asn266Lys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1023C>A
  hgvsp: ENSP00000358582.1:p.Asn341Lys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.251C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1023C>A
  hgvsp: ENSP00000256658.4:p.Asn341Lys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000460653
  gene symbol: AP4B1
  hgvsc: ENST00000460653.1:n.14C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.519C>A
  hgvsp: ENSP00000393622.1:p.Asn173Lys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.519C>A
  hgvsp: ENSP00000358580.1:p.Asn173Lys
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn341Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-114442631-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442631
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.784T>C
  hgvsp: ENSP00000358577.1:p.Cys262Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.977T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+261T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.505T>C
  hgvsp: ENSP00000393622.1:p.Cys169Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.1009T>C
  hgvsp: ENSP00000256658.4:p.Cys337Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.505T>C
  hgvsp: ENSP00000358580.1:p.Cys169Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.506A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.1009T>C
  hgvsp: ENSP00000358582.1:p.Cys337Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.237T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.730T>C
  hgvsp: ENSP00000358579.3:p.Cys244Arg
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys337Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-114442640-CCACTTTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442632
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.767_774delAGAAAGTG
  hgvsp: ENSP00000358577.1:p.Gln256ArgfsTer5
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.713_720delAGAAAGTG
  hgvsp: ENSP00000358579.3:p.Gln238ArgfsTer5
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.488_495delAGAAAGTG
  hgvsp: ENSP00000393622.1:p.Gln163ArgfsTer5
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.992_999delAGAAAGTG
  hgvsp: ENSP00000358582.1:p.Gln331ArgfsTer5
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.220_227delAGAAAGTG
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.488_495delAGAAAGTG
  hgvsp: ENSP00000358580.1:p.Gln163ArgfsTer5
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.992_999delAGAAAGTG
  hgvsp: ENSP00000256658.4:p.Gln331ArgfsTer5
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.960_967delAGAAAGTG
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.516_523delCACTTTCT
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln331ArgfsTer5
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CCACTTTCT
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-114442644-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442644
    reference: chr 1
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.519T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.771A>G
  hgvsp: ENST00000369564.1:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.224A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.996A>G
  hgvsp: ENST00000256658.4:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+248A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.492A>G
  hgvsp: ENST00000432415.1:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.964A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.996A>G
  hgvsp: ENST00000369569.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.492A>G
  hgvsp: ENST00000369567.1:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.717A>G
  hgvsp: ENST00000369566.3:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys332Lys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-114442671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442671
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.690G>A
  hgvsp: ENST00000369566.3:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.744G>A
  hgvsp: ENST00000369564.1:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.969G>A
  hgvsp: ENST00000256658.4:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.969G>A
  hgvsp: ENST00000369569.1:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.465G>A
  hgvsp: ENST00000369567.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.197G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.546C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.937G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.465G>A
  hgvsp: ENST00000432415.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+221G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser323Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-114442672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442672
    reference: chr 1
allele count: 92
allele frequency: 7.577754348972062e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.936C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.464C>T
  hgvsp: ENSP00000358580.1:p.Ser155Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.689C>T
  hgvsp: ENSP00000358579.3:p.Ser230Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.968C>T
  hgvsp: ENSP00000358582.1:p.Ser323Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.196C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.743C>T
  hgvsp: ENSP00000358577.1:p.Ser248Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.464C>T
  hgvsp: ENSP00000393622.1:p.Ser155Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.547G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.968C>T
  hgvsp: ENSP00000256658.4:p.Ser323Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+220C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser323Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

1-114442672-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442671
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+219delT
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.967delT
  hgvsp: ENSP00000256658.4:p.Ser323ArgfsTer18
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.742delT
  hgvsp: ENSP00000358577.1:p.Ser248ArgfsTer18
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.935delT
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.688delT
  hgvsp: ENSP00000358579.3:p.Ser230ArgfsTer18
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.463delT
  hgvsp: ENSP00000393622.1:p.Ser155ArgfsTer18
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.463delT
  hgvsp: ENSP00000358580.1:p.Ser155ArgfsTer18
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.548delA
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.967delT
  hgvsp: ENSP00000358582.1:p.Ser323ArgfsTer18
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.195delT
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser323ArgfsTer18
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: GA
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

1-114442673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442673
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.195T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.967T>C
  hgvsp: ENSP00000358582.1:p.Ser323Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.967T>C
  hgvsp: ENSP00000256658.4:p.Ser323Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.688T>C
  hgvsp: ENSP00000358579.3:p.Ser230Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.935T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.463T>C
  hgvsp: ENSP00000393622.1:p.Ser155Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.548A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.742T>C
  hgvsp: ENSP00000358577.1:p.Ser248Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.463T>C
  hgvsp: ENSP00000358580.1:p.Ser155Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+219T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25341
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser323Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-114442673-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442673
    reference: chr 1
allele count: 21
allele frequency: 1.72970479704797e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.688T>A
  hgvsp: ENSP00000358579.3:p.Ser230Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.967T>A
  hgvsp: ENSP00000256658.4:p.Ser323Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.742T>A
  hgvsp: ENSP00000358577.1:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.195T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.548A>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.967T>A
  hgvsp: ENSP00000358582.1:p.Ser323Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.935T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.463T>A
  hgvsp: ENSP00000393622.1:p.Ser155Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+219T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.463T>A
  hgvsp: ENSP00000358580.1:p.Ser155Thr
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser323Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-114442674-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442673
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.461delA
  hgvsp: ENSP00000393622.1:p.Tyr154SerfsTer19
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.965delA
  hgvsp: ENSP00000358582.1:p.Tyr322SerfsTer19
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.686delA
  hgvsp: ENSP00000358579.3:p.Tyr229SerfsTer19
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.550delT
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.933delA
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.740delA
  hgvsp: ENSP00000358577.1:p.Tyr247SerfsTer19
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.193delA
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+217delA
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.965delA
  hgvsp: ENSP00000256658.4:p.Tyr322SerfsTer19
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.461delA
  hgvsp: ENSP00000358580.1:p.Tyr154SerfsTer19
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr322SerfsTer19
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: GT
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-114442675-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442675
    reference: chr 1
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.933A>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.740A>T
  hgvsp: ENSP00000358577.1:p.Tyr247Phe
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.965A>T
  hgvsp: ENSP00000256658.4:p.Tyr322Phe
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.461A>T
  hgvsp: ENSP00000393622.1:p.Tyr154Phe
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.461A>T
  hgvsp: ENSP00000358580.1:p.Tyr154Phe
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.686A>T
  hgvsp: ENSP00000358579.3:p.Tyr229Phe
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.965A>T
  hgvsp: ENSP00000358582.1:p.Tyr322Phe
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+217A>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.193A>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.550T>A
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11814
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Tyr322Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-114442679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442679
    reference: chr 1
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.736T>C
  hgvsp: ENSP00000358577.1:p.Ser246Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.961T>C
  hgvsp: ENSP00000256658.4:p.Ser321Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.961T>C
  hgvsp: ENSP00000358582.1:p.Ser321Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.189T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.457T>C
  hgvsp: ENSP00000393622.1:p.Ser153Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.682T>C
  hgvsp: ENSP00000358579.3:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.929T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.457T>C
  hgvsp: ENSP00000358580.1:p.Ser153Pro
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.554A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+213T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser321Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-114442681-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442680
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.926delT
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.733delT
  hgvsp: ENSP00000358577.1:p.Cys245AlafsTer21
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.958delT
  hgvsp: ENSP00000256658.4:p.Cys320AlafsTer21
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.454delT
  hgvsp: ENSP00000358580.1:p.Cys152AlafsTer21
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+210delT
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.186delT
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.563delA
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.679delT
  hgvsp: ENSP00000358579.3:p.Cys227AlafsTer21
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.454delT
  hgvsp: ENSP00000393622.1:p.Cys152AlafsTer21
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.958delT
  hgvsp: ENSP00000358582.1:p.Cys320AlafsTer21
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys320AlafsTer21
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: CA
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-114442683-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442683
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442683
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.957T>C
  hgvsp: ENST00000256658.4:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.453T>C
  hgvsp: ENST00000369567.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.558A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.453T>C
  hgvsp: ENST00000432415.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.957T>C
  hgvsp: ENST00000369569.1:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.678T>C
  hgvsp: ENST00000369566.3:c.678T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+209T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.185T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.732T>C
  hgvsp: ENST00000369564.1:c.732T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.925T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe319Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-114442688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442688
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.180T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.448T>C
  hgvsp: ENSP00000393622.1:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.952T>C
  hgvsp: ENSP00000256658.4:p.Phe318Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.563A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.727T>C
  hgvsp: ENSP00000358577.1:p.Phe243Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.448T>C
  hgvsp: ENSP00000358580.1:p.Phe150Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.920T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+204T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.951T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.673T>C
  hgvsp: ENSP00000358579.3:p.Phe225Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.952T>C
  hgvsp: ENSP00000358582.1:p.Phe318Leu
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe318Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-114442688-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442688
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.563A>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.952T>A
  hgvsp: ENSP00000256658.4:p.Phe318Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.448T>A
  hgvsp: ENSP00000393622.1:p.Phe150Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.951T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+204T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.727T>A
  hgvsp: ENSP00000358577.1:p.Phe243Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.180T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.673T>A
  hgvsp: ENSP00000358579.3:p.Phe225Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.952T>A
  hgvsp: ENSP00000358582.1:p.Phe318Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.920T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.448T>A
  hgvsp: ENSP00000358580.1:p.Phe150Ile
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe318Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-114442693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442693
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+199A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.443A>G
  hgvsp: ENSP00000358580.1:p.Lys148Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.946A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.175A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.947A>G
  hgvsp: ENSP00000358582.1:p.Lys316Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.947A>G
  hgvsp: ENSP00000256658.4:p.Lys316Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.668A>G
  hgvsp: ENSP00000358579.3:p.Lys223Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.722A>G
  hgvsp: ENSP00000358577.1:p.Lys241Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.915A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.443A>G
  hgvsp: ENSP00000393622.1:p.Lys148Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.568T>C
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys316Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-114442694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442694
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.914A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+198A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.174A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.442A>G
  hgvsp: ENSP00000358580.1:p.Lys148Glu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.721A>G
  hgvsp: ENSP00000358577.1:p.Lys241Glu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.946A>G
  hgvsp: ENSP00000256658.4:p.Lys316Glu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.442A>G
  hgvsp: ENSP00000393622.1:p.Lys148Glu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.667A>G
  hgvsp: ENSP00000358579.3:p.Lys223Glu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.569T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.946A>G
  hgvsp: ENSP00000358582.1:p.Lys316Glu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.945A>G
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys316Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-114442697-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442697
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.942T>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.943T>G
  hgvsp: ENSP00000256658.4:p.Tyr315Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.439T>G
  hgvsp: ENSP00000358580.1:p.Tyr147Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.171T>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.572A>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.943T>G
  hgvsp: ENSP00000358582.1:p.Tyr315Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.439T>G
  hgvsp: ENSP00000393622.1:p.Tyr147Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.664T>G
  hgvsp: ENSP00000358579.3:p.Tyr222Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+195T>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.718T>G
  hgvsp: ENSP00000358577.1:p.Tyr240Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.911T>G
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr315Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-114442699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442699
    reference: chr 1
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.941A>G
  hgvsp: ENSP00000256658.4:p.His314Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.437A>G
  hgvsp: ENSP00000393622.1:p.His146Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.940A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.941A>G
  hgvsp: ENSP00000358582.1:p.His314Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.662A>G
  hgvsp: ENSP00000358579.3:p.His221Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.909A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+193A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.716A>G
  hgvsp: ENSP00000358577.1:p.His239Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.437A>G
  hgvsp: ENSP00000358580.1:p.His146Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.574T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.169A>G
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His314Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-114442702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442702
    reference: chr 1
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.713G>A
  hgvsp: ENSP00000358577.1:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+190G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.577C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.937G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.938G>A
  hgvsp: ENSP00000256658.4:p.Ser313Asn
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.434G>A
  hgvsp: ENSP00000358580.1:p.Ser145Asn
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.906G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.434G>A
  hgvsp: ENSP00000393622.1:p.Ser145Asn
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.938G>A
  hgvsp: ENSP00000358582.1:p.Ser313Asn
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.166G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.659G>A
  hgvsp: ENSP00000358579.3:p.Ser220Asn
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser313Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-114442705-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442705
    reference: chr 1
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.656G>T
  hgvsp: ENSP00000358579.3:p.Ser219Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.163G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.934G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.935G>T
  hgvsp: ENSP00000256658.4:p.Ser312Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.935G>T
  hgvsp: ENSP00000358582.1:p.Ser312Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.431G>T
  hgvsp: ENSP00000393622.1:p.Ser144Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.710G>T
  hgvsp: ENSP00000358577.1:p.Ser237Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+187G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.431G>T
  hgvsp: ENSP00000358580.1:p.Ser144Ile
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.903G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.580C>A
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser312Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-114442705-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442705
    reference: chr 1
allele count: 40
allele frequency: 3.345600535296086e-4
allele num: 119560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.903G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+187G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.431G>C
  hgvsp: ENSP00000393622.1:p.Ser144Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.431G>C
  hgvsp: ENSP00000358580.1:p.Ser144Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.935G>C
  hgvsp: ENSP00000256658.4:p.Ser312Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.656G>C
  hgvsp: ENSP00000358579.3:p.Ser219Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.935G>C
  hgvsp: ENSP00000358582.1:p.Ser312Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.710G>C
  hgvsp: ENSP00000358577.1:p.Ser237Thr
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.163G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.934G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.580C>G
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser312Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-114442707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442707
    reference: chr 1
allele count: 9
allele frequency: 7.416319198378298e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.429T>C
  hgvsp: ENST00000369567.1:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.932T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.901T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.933T>C
  hgvsp: ENST00000256658.4:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.654T>C
  hgvsp: ENST00000369566.3:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.708T>C
  hgvsp: ENST00000369564.1:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.582A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+185T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.429T>C
  hgvsp: ENST00000432415.1:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.933T>C
  hgvsp: ENST00000369569.1:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.161T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe311Phe
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: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-114442714-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442714
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.422G>C
  hgvsp: ENSP00000393622.1:p.Gly141Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.422G>C
  hgvsp: ENSP00000358580.1:p.Gly141Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.701G>C
  hgvsp: ENSP00000358577.1:p.Gly234Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.647G>C
  hgvsp: ENSP00000358579.3:p.Gly216Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+178G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.926G>C
  hgvsp: ENSP00000256658.4:p.Gly309Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.894G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.154G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.926G>C
  hgvsp: ENSP00000358582.1:p.Gly309Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.925G>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.589C>G
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly309Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-114442726-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442726
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.601T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+166A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.410A>G
  hgvsp: ENSP00000393622.1:p.His137Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.142A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.882A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.689A>G
  hgvsp: ENSP00000358577.1:p.His230Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.914A>G
  hgvsp: ENSP00000256658.4:p.His305Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.914A>G
  hgvsp: ENSP00000358582.1:p.His305Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.635A>G
  hgvsp: ENSP00000358579.3:p.His212Arg
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.913A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.410A>G
  hgvsp: ENSP00000358580.1:p.His137Arg
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His305Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-114442728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442728
    reference: chr 1
allele count: 121
allele frequency: 9.966230129313895e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.912G>A
  hgvsp: ENST00000256658.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.911G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.633G>A
  hgvsp: ENST00000369566.3:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.687G>A
  hgvsp: ENST00000369564.1:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.912G>A
  hgvsp: ENST00000369569.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.140G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.880G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.408G>A
  hgvsp: ENST00000432415.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.408G>A
  hgvsp: ENST00000369567.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.603C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+164G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu304Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

1-114442731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442731
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.606G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.909C>T
  hgvsp: ENST00000256658.4:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.630C>T
  hgvsp: ENST00000369566.3:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.405C>T
  hgvsp: ENST00000369567.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.405C>T
  hgvsp: ENST00000432415.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.137C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.909C>T
  hgvsp: ENST00000369569.1:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.684C>T
  hgvsp: ENST00000369564.1:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.908C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.877C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+161C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile303Ile
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

1-114442731-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442731
    reference: chr 1
allele count: 18
allele frequency: 1.482628535657216e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.405C>A
  hgvsp: ENST00000369567.1:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.684C>A
  hgvsp: ENST00000369564.1:c.684C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.137C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.909C>A
  hgvsp: ENST00000256658.4:c.909C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.405C>A
  hgvsp: ENST00000432415.1:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.909C>A
  hgvsp: ENST00000369569.1:c.909C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.877C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+161C>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.606G>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.630C>A
  hgvsp: ENST00000369566.3:c.630C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.908C>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile303Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-114442738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442738
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.623G>A
  hgvsp: ENSP00000358579.3:p.Arg208His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.613C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+154G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.902G>A
  hgvsp: ENSP00000256658.4:p.Arg301His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.677G>A
  hgvsp: ENSP00000358577.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.870G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.901G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.398G>A
  hgvsp: ENSP00000393622.1:p.Arg133His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.398G>A
  hgvsp: ENSP00000358580.1:p.Arg133His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.902G>A
  hgvsp: ENSP00000358582.1:p.Arg301His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.130G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg301His
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-114442739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442739
    reference: chr 1
allele count: 13
allele frequency: 1.07080491581826e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.622C>T
  hgvsp: ENSP00000358579.3:p.Arg208Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.676C>T
  hgvsp: ENSP00000358577.1:p.Arg226Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.901C>T
  hgvsp: ENSP00000358582.1:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.397C>T
  hgvsp: ENSP00000393622.1:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.614G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.869C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.900C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.901C>T
  hgvsp: ENSP00000256658.4:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.129C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.397C>T
  hgvsp: ENSP00000358580.1:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+153C>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg301Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-114442740-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442740
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.396A>G
  hgvsp: ENST00000432415.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.899A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.900A>G
  hgvsp: ENST00000369569.1:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.900A>G
  hgvsp: ENST00000256658.4:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.128A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.675A>G
  hgvsp: ENST00000369564.1:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.621A>G
  hgvsp: ENST00000369566.3:c.621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+152A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.615T>C
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.396A>G
  hgvsp: ENST00000369567.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.868A>G
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val300Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-114442742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442742
    reference: chr 1
allele count: 38
allele frequency: 3.129942013705851e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.394G>T
  hgvsp: ENSP00000358580.1:p.Val132Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.673G>T
  hgvsp: ENSP00000358577.1:p.Val225Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.897G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+150G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.866G>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.898G>T
  hgvsp: ENSP00000358582.1:p.Val300Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.619G>T
  hgvsp: ENSP00000358579.3:p.Val207Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.394G>T
  hgvsp: ENSP00000393622.1:p.Val132Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.898G>T
  hgvsp: ENSP00000256658.4:p.Val300Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.617C>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.126G>T
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Val300Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-114442745-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442745
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.863C>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.895C>G
  hgvsp: ENSP00000256658.4:p.His299Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+147C>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.895C>G
  hgvsp: ENSP00000358582.1:p.His299Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.670C>G
  hgvsp: ENSP00000358577.1:p.His224Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.391C>G
  hgvsp: ENSP00000393622.1:p.His131Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.616C>G
  hgvsp: ENSP00000358579.3:p.His206Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.391C>G
  hgvsp: ENSP00000358580.1:p.His131Asp
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.894C>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.123C>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.620G>C
  variant of: http://identifiers.org/hgnc/44114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His299Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-114442746-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442746
    reference: chr 1
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.669T>A
  hgvsp: ENSP00000358577.1:p.Cys223Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.122T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.894T>A
  hgvsp: ENSP00000256658.4:p.Cys298Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+146T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.615T>A
  hgvsp: ENSP00000358579.3:p.Cys205Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.621A>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.893T>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.390T>A
  hgvsp: ENSP00000358580.1:p.Cys130Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.390T>A
  hgvsp: ENSP00000393622.1:p.Cys130Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.894T>A
  hgvsp: ENSP00000358582.1:p.Cys298Ter
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.862T>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys298Ter
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-114442749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442749
    reference: chr 1
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.890T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+143T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.891T>C
  hgvsp: ENST00000369569.1:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.612T>C
  hgvsp: ENST00000369566.3:c.612T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.624A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.387T>C
  hgvsp: ENST00000432415.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.119T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.891T>C
  hgvsp: ENST00000256658.4:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.387T>C
  hgvsp: ENST00000369567.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.666T>C
  hgvsp: ENST00000369564.1:c.666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.859T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu297Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

1-114442755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442755
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.630A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.606T>C
  hgvsp: ENST00000369566.3:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.660T>C
  hgvsp: ENST00000369564.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.885T>C
  hgvsp: ENST00000256658.4:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+137T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.381T>C
  hgvsp: ENST00000432415.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.381T>C
  hgvsp: ENST00000369567.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.884T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.853T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.113T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.885T>C
  hgvsp: ENST00000369569.1:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val295Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-114442756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442756
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.380T>C
  hgvsp: ENSP00000358580.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.380T>C
  hgvsp: ENSP00000393622.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+136T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.112T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.852T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.884T>C
  hgvsp: ENSP00000358582.1:p.Val295Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.659T>C
  hgvsp: ENSP00000358577.1:p.Val220Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.884T>C
  hgvsp: ENSP00000256658.4:p.Val295Ala
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.631A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.883T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.605T>C
  hgvsp: ENSP00000358579.3:p.Val202Ala
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val295Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-114442760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442760
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442760
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.879T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.601T>C
  hgvsp: ENSP00000358579.3:p.Phe201Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.108T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.635A>G
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.376T>C
  hgvsp: ENSP00000393622.1:p.Phe126Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.880T>C
  hgvsp: ENSP00000256658.4:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.655T>C
  hgvsp: ENSP00000358577.1:p.Phe219Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+132T>C
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.376T>C
  hgvsp: ENSP00000358580.1:p.Phe126Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.880T>C
  hgvsp: ENSP00000358582.1:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.848T>C
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe294Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-114442771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442771
    reference: chr 1
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.644G>A
  hgvsp: ENSP00000358577.1:p.Arg215His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.868G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.837G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.869G>A
  hgvsp: ENSP00000358582.1:p.Arg290His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.365G>A
  hgvsp: ENSP00000393622.1:p.Arg122His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.646C>T
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.590G>A
  hgvsp: ENSP00000358579.3:p.Arg197His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.869G>A
  hgvsp: ENSP00000256658.4:p.Arg290His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.365G>A
  hgvsp: ENSP00000358580.1:p.Arg122His
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+121G>A
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.97G>A
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg290His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-114442772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442772
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442772
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226167
  ensembl transcript: ENST00000419536
  gene symbol: AP4B1-AS1
  hgvsc: ENST00000419536.1:n.647G>A
  variant of: http://identifiers.org/hgnc/44114
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.96C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000484201
  gene symbol: AP4B1
  hgvsc: ENST00000484201.1:n.714+120C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.589C>T
  hgvsp: ENSP00000358579.3:p.Arg197Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358582
  ensembl transcript: ENST00000369569
  gene symbol: AP4B1
  hgvsc: ENST00000369569.1:c.868C>T
  hgvsp: ENSP00000358582.1:p.Arg290Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.643C>T
  hgvsp: ENSP00000358577.1:p.Arg215Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.867C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358580
  ensembl transcript: ENST00000369567
  gene symbol: AP4B1
  hgvsc: ENST00000369567.1:c.364C>T
  hgvsp: ENSP00000358580.1:p.Arg122Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.868C>T
  hgvsp: ENSP00000256658.4:p.Arg290Cys
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489499
  gene symbol: AP4B1
  hgvsc: ENST00000489499.1:n.836C>T
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.364C>T
  hgvsp: ENSP00000393622.1:p.Arg122Cys
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg290Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-114442777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114442777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114442777
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000479285
  gene symbol: AP4B1
  hgvsc: ENST00000479285.1:n.91A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358579
  ensembl transcript: ENST00000369566
  gene symbol: AP4B1
  hgvsc: ENST00000369566.3:c.584A>G
  hgvsp: ENSP00000358579.3:p.Glu195Gly
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000256658
  ensembl transcript: ENST00000256658
  gene symbol: AP4B1
  hgvsc: ENST00000256658.4:c.863A>G
  hgvsp: ENSP00000256658.4:p.Glu288Gly
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000358577
  ensembl transcript: ENST00000369564
  gene symbol: AP4B1
  hgvsc: ENST00000369564.1:c.638A>G
  hgvsp: ENSP00000358577.1:p.Glu213Gly
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134262
  ensembl transcript: ENST00000489092
  gene symbol: AP4B1
  hgvsc: ENST00000489092.1:n.862A>G
  variant of: http://identifiers.org/hgnc/572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134262
  ensembl protein: ENSP00000393622
  ensembl transcript: ENST00000432415
  gene symbol: AP4B1
  hgvsc: ENST00000432415.1:c.359A>G
  hgvsp: ENSP00000393622.1:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/572
canonical: true
consequence: missense
filter: PASS
hgvs: p.Glu288Gly
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 25268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.53e0

DP
type: SiteQuality
SIO_000300: 2.135121e6

FS
type: SiteQuality
SIO_000300: 3.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.272e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

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

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11924
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
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: 8650
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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 1.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 2.135499e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11924
bin: 9.75e1
variant carriers: 1

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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.295e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 7.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.744e0

DP
type: SiteQuality
SIO_000300: 2.135878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

VQSLOD
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SIO_000300: -2.057e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 11578
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 3.877e0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
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
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

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

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

FS
type: SiteQuality
SIO_000300: 4.146e0

DP
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SIO_000300: 2.136113e6

BaseQRankSum
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SIO_000300: -4.141e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

MQRankSum
type: SiteQuality
SIO_000300: -1.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

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
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
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: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
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SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.518e1

DP
type: SiteQuality
SIO_000300: 2.136808e6

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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variant carriers: 16

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

East Asian
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allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.493106342165208e-5
allele num: 66728
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
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SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
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SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 2.139771e6

FS
type: SiteQuality
SIO_000300: 1.846e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-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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variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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VQSLOD
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SIO_000300: -1.9e-2

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

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

Other
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African
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allele frequency: 1.921968095329617e-4
allele num: 10406
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

South Asian
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allele num: 16510
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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QD
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.397e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11906
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2744
bin: 9.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 3.019e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 2.136162e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 2.136333e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 11904
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 2.137027e6

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2745
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 5.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.365e0

VQSLOD
type: SiteQuality
SIO_000300: -2.845e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 2.136131e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.525e0

ClippingRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

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

European (Finnish)
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

FS
type: SiteQuality
SIO_000300: 1.125e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
SIO_000300: 1.275e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.936e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 4.626e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 2.136013e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
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

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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DP
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SIO_000300: 2.136078e6

BaseQRankSum
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SIO_000300: -2.781e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.103e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
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QD
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SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -8.474e0

FS
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MQ
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SIO_000300: 5.93e1

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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European (Finnish)
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allele count: 0
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VQSLOD
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DP
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MQ
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

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

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

European (Finnish)
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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

East Asian
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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QD
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
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SIO_000300: 9.69e-1

ReadPosRankSum
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SIO_000300: 1.2e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
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FS
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SIO_000300: 1.103e0

InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 8.088745088976196e-4
allele num: 8654
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

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

Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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DP
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ClippingRankSum
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MQ
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QD
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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African
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East Asian
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Other
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VQSLOD
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QD
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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African
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South Asian
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East Asian
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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African
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European (Finnish)
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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South Asian
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Latino
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European (Finnish)
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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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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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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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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African
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South Asian
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Latino
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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DP
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.594e0

FS
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.105e0

QD
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SIO_000300: 1.357e1

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 2.136108e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 21

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

African
type: Population
allele count: 19
allele frequency: 1.826220684352172e-3
allele num: 10404
num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.105e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 2.136108e6

QD
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.855e0

DP
type: SiteQuality
SIO_000300: 2.132653e6

ReadPosRankSum
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SIO_000300: -3.956e0

FS
type: SiteQuality
SIO_000300: 1.8374e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: -1.223e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

QD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 2.133626e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
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SIO_000300: 2.18e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

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
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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

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
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num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 2.132593e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

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

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

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

European (Non-Finnish)
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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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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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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allele frequency: 0.0e0
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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allele frequency: 1.155535012710885e-4
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Latino
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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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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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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Other
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South Asian
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European (Finnish)
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Latino
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East Asian
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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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 (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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MQ
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VQSLOD
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DP
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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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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 num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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MQ
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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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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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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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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Latino
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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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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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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MQRankSum
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QD
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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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bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24764
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 7623
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3647
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2712
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4367
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 1

African
type: Population
allele count: 13
allele frequency: 1.324638271856532e-3
allele num: 9814
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.811440419563361e-4
allele num: 65592
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.29077e2

QD
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e0

DP
type: SiteQuality
SIO_000300: 2.165183e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.536e2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.074e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7782
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4410
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11821
bin: 9.75e1
variant carriers: 9

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

South Asian
type: Population
allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.135257e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

FS
type: SiteQuality
SIO_000300: 2.677e0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 7796
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1720
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variant carriers: 0

GenotypeQuality
all individuals: 4413
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
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variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11810
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.133761e6

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -4.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 3.7e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 2.013e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.189e0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11818
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2734
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
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: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.014e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 2.131622e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.127e-1

FS
type: SiteQuality
SIO_000300: 8.036e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 2730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7797
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25424
bin: 6.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 3676
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variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11862
bin: 9.75e1
variant carriers: 120

European (Non-Finnish)
type: Population
allele count: 64
allele frequency: 9.58945160323644e-4
allele num: 66740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 54
allele frequency: 3.270348837209302e-3
allele num: 16512
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.142073e6

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.599e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

FS
type: SiteQuality
SIO_000300: 1.963e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 4415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 25508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 2731
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11762
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7820
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 2.130189e6

GenotypeQuality
all individuals: 11762
bin: 9.75e1
variant carriers: 18

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 4415
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25508
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 12
allele frequency: 1.79807605861728e-4
allele num: 66738
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.130189e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4419
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25527
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variant carriers: 0

GenotypeQuality
all individuals: 1714
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variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7820
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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African
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allele frequency: 3.556324490580546e-3
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Latino
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European (Non-Finnish)
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FS
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
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Other
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African
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East Asian
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South Asian
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European (Finnish)
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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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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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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African
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.636e1

VQSLOD
type: SiteQuality
SIO_000300: -2.485e-1

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

GenotypeQuality
all individuals: 2732
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7828
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

DP
type: SiteQuality
SIO_000300: 2.127795e6

FS
type: SiteQuality
SIO_000300: 7.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

MQ
type: SiteQuality
SIO_000300: 5.793e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.417e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.211e1

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

GenotypeQuality
all individuals: 7830
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25554
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2982
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 5.731e0

QD
type: SiteQuality
SIO_000300: 1.449e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.127714e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: -9.021e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.043e0

GenotypeQuality
all individuals: 1712
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 25543
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4419
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11719
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 5.25e1
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 2.127949e6

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4419
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7822
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25548
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11713
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 2.127586e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1