17-33963440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963440
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963440
    reference: chr 17
allele count: 57
allele frequency: 4.71744959777535e-4
allele num: 120828
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1236T>C
  hgvsp: ENST00000312678.8:c.1236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1236T>C
  hgvsp: ENST00000537622.2:c.1236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.800T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.183T>C
  hgvsp: ENST00000588116.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1236T>C
  hgvsp: ENST00000589344.1:c.1236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1065T>C
  hgvsp: ENST00000538556.1:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1172T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1236T>C
  hgvsp: ENST00000262325.7:c.1236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1122T>C
  hgvsp: ENST00000592545.1:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val412Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-33963449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963449
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963449
    reference: chr 17
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1131G>A
  hgvsp: ENST00000592545.1:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1245G>A
  hgvsp: ENST00000537622.2:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1245G>A
  hgvsp: ENST00000262325.7:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1245G>A
  hgvsp: ENST00000312678.8:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.809G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1181G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1245G>A
  hgvsp: ENST00000589344.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1074G>A
  hgvsp: ENST00000538556.1:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.192G>A
  hgvsp: ENST00000588116.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg415Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-33963470-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963470
    reference: chr 17
allele count: 1
allele frequency: 8.399267583866688e-6
allele num: 119058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1095C>G
  hgvsp: ENST00000538556.1:c.1095C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1266C>G
  hgvsp: ENST00000312678.8:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1266C>G
  hgvsp: ENST00000262325.7:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1266C>G
  hgvsp: ENST00000589344.1:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1266C>G
  hgvsp: ENST00000537622.2:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1202C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1152C>G
  hgvsp: ENST00000592545.1:c.1152C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.830C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.213C>G
  hgvsp: ENST00000588116.1:c.213C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro422Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-33963475-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963475
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963475
    reference: chr 17
allele count: 1
allele frequency: 8.473427331887202e-6
allele num: 118016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271A>G
  hgvsp: ENSP00000467883.1:p.Lys424Arg
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271A>G
  hgvsp: ENSP00000262325.6:p.Lys424Arg
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271A>G
  hgvsp: ENSP00000314414.7:p.Lys424Arg
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271A>G
  hgvsp: ENSP00000437413.1:p.Lys424Arg
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100A>G
  hgvsp: ENSP00000440563.1:p.Lys367Arg
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218A>G
  hgvsp: ENSP00000464966.1:p.Lys73Arg
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157A>G
  hgvsp: ENSP00000465316.1:p.Lys386Arg
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys424Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-33963486-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963486
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963486
    reference: chr 17
allele count: 3
allele frequency: 2.606112201817329e-5
allele num: 115114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+11A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+11A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38287
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-33963497-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963497
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963495
    reference: chr 17
allele count: 1
allele frequency: 8.931123178050872e-6
allele num: 111968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+25_835+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+25_1271+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+25_1271+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+25_1100+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+25_1157+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+25_*1207+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+25_218+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+25_1271+26delCT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+25_1271+26delCT
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: CCT
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-33963498-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963498
    reference: chr 17
allele count: 1
allele frequency: 8.954315084439191e-6
allele num: 111678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+23C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+23C>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-33963500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963500
    reference: chr 17
allele count: 2
allele frequency: 1.796751473336208e-5
allele num: 111312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+25C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+25C>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-33963517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963517
    reference: chr 17
allele count: 2
allele frequency: 1.888788153520701e-5
allele num: 105888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+42G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+42G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14292
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/17-33963521-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963521
    reference: chr 17
allele count: 2
allele frequency: 1.915782213877926e-5
allele num: 104396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+46A>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+46A>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18126
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-33963523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33963523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33963523
    reference: chr 17
allele count: 1
allele frequency: 9.72800498073855e-6
allele num: 102796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1271+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.218+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1157+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1271+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1207+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.835+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1100+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1271+48G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1271+48G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-33966599-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966600
    reference: chr 17
allele count: 1
allele frequency: 8.716571946584848e-6
allele num: 114724
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-7dupT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-7dupT
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14849
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-33966599-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966599
    reference: chr 17
allele count: 1
allele frequency: 8.716571946584848e-6
allele num: 114724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-15A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14849
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-33966599-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966598
    reference: chr 17
allele count: 1
allele frequency: 8.716571946584848e-6
allele num: 114724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-7delT
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6992
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: AT
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-33966602-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966602
    reference: chr 17
allele count: 1
allele frequency: 8.610594475442584e-6
allele num: 116136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-12T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-12T>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16025
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

17-33966605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966605
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966605
    reference: chr 17
allele count: 1
allele frequency: 8.585901948999742e-6
allele num: 116470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-9T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-9T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

17-33966607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966607
    reference: chr 17
allele count: 1
allele frequency: 8.566484486096596e-6
allele num: 116734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-7T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-7T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1272-7T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-33966609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966609
    reference: chr 17
allele count: 2
allele frequency: 1.706805031661233e-5
allele num: 117178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-5A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-5A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1272-5A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-33966611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966611
    reference: chr 17
allele count: 2
allele frequency: 1.701056355997074e-5
allele num: 117574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1272-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1272-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.836-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1272-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1158-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1272-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1208-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1101-3C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.219-3C>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1272-3C>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-33966629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966629
    reference: chr 17
allele count: 630
allele frequency: 5.245628642797669e-3
allele num: 120100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1116C>T
  hgvsp: ENST00000538556.1:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1223C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1287C>T
  hgvsp: ENST00000312678.8:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1287C>T
  hgvsp: ENST00000589344.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.234C>T
  hgvsp: ENST00000588116.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1287C>T
  hgvsp: ENST00000537622.2:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1287C>T
  hgvsp: ENST00000262325.7:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.851C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1173C>T
  hgvsp: ENST00000592545.1:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13473
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 11409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile429Ile
num of homozygotes: 18
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-33966656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966656
    reference: chr 17
allele count: 30
allele frequency: 2.474104374216534e-4
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1314G>A
  hgvsp: ENST00000589344.1:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1200G>A
  hgvsp: ENST00000592545.1:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1314G>A
  hgvsp: ENST00000262325.7:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1143G>A
  hgvsp: ENST00000538556.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1314G>A
  hgvsp: ENST00000312678.8:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1314G>A
  hgvsp: ENST00000537622.2:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.261G>A
  hgvsp: ENST00000588116.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1250G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.878G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser438Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-33966675-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966675
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.897C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1333C>G
  hgvsp: ENSP00000314414.7:p.Arg445Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1333C>G
  hgvsp: ENSP00000262325.6:p.Arg445Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1269C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1219C>G
  hgvsp: ENSP00000465316.1:p.Arg407Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.280C>G
  hgvsp: ENSP00000464966.1:p.Arg94Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1162C>G
  hgvsp: ENSP00000440563.1:p.Arg388Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1333C>G
  hgvsp: ENSP00000467883.1:p.Arg445Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1333C>G
  hgvsp: ENSP00000437413.1:p.Arg445Gly
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg445Gly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-33966678-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966678
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1336G>T
  hgvsp: ENSP00000467883.1:p.Ala446Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.283G>T
  hgvsp: ENSP00000464966.1:p.Ala95Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1336G>T
  hgvsp: ENSP00000262325.6:p.Ala446Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1165G>T
  hgvsp: ENSP00000440563.1:p.Ala389Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1222G>T
  hgvsp: ENSP00000465316.1:p.Ala408Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1272G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1336G>T
  hgvsp: ENSP00000437413.1:p.Ala446Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1336G>T
  hgvsp: ENSP00000314414.7:p.Ala446Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.900G>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala446Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-33966689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966689
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1347T>C
  hgvsp: ENST00000537622.2:c.1347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.294T>C
  hgvsp: ENST00000588116.1:c.294T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1233T>C
  hgvsp: ENST00000592545.1:c.1233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1347T>C
  hgvsp: ENST00000262325.7:c.1347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1283T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1347T>C
  hgvsp: ENST00000312678.8:c.1347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1176T>C
  hgvsp: ENST00000538556.1:c.1176T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.911T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1347T>C
  hgvsp: ENST00000589344.1:c.1347T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7365
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile449Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-33966711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966711
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966711
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1198G>A
  hgvsp: ENSP00000440563.1:p.Glu400Lys
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1369G>A
  hgvsp: ENSP00000314414.7:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1369G>A
  hgvsp: ENSP00000437413.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.316G>A
  hgvsp: ENSP00000464966.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1305G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1369G>A
  hgvsp: ENSP00000467883.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1255G>A
  hgvsp: ENSP00000465316.1:p.Glu419Lys
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.933G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1369G>A
  hgvsp: ENSP00000262325.6:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu457Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

17-33966725-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966725
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966725
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1383T>C
  hgvsp: ENST00000537622.2:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1383T>C
  hgvsp: ENST00000312678.8:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.330T>C
  hgvsp: ENST00000588116.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1269T>C
  hgvsp: ENST00000592545.1:c.1269T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1383T>C
  hgvsp: ENST00000589344.1:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.947T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1383T>C
  hgvsp: ENST00000262325.7:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1319T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1212T>C
  hgvsp: ENST00000538556.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn461Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-33966740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966740
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1227A>G
  hgvsp: ENST00000538556.1:c.1227A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1398A>G
  hgvsp: ENST00000537622.2:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1334A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1398A>G
  hgvsp: ENST00000262325.7:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1398A>G
  hgvsp: ENST00000589344.1:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1284A>G
  hgvsp: ENST00000592545.1:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.962A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.345A>G
  hgvsp: ENST00000588116.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1398A>G
  hgvsp: ENST00000312678.8:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu466Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-33966772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966772
    reference: chr 17
allele count: 4
allele frequency: 3.327787021630615e-5
allele num: 120200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1366G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.994G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1430G>A
  hgvsp: ENSP00000262325.6:p.Ser477Asn
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1259G>A
  hgvsp: ENSP00000440563.1:p.Ser420Asn
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.377G>A
  hgvsp: ENSP00000464966.1:p.Ser126Asn
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1430G>A
  hgvsp: ENSP00000314414.7:p.Ser477Asn
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1316G>A
  hgvsp: ENSP00000465316.1:p.Ser439Asn
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1430G>A
  hgvsp: ENSP00000467883.1:p.Ser477Asn
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1430G>A
  hgvsp: ENSP00000437413.1:p.Ser477Asn
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser477Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

17-33966782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966782
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966782
    reference: chr 17
allele count: 4
allele frequency: 3.343363423604146e-5
allele num: 119640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+3A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+3A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14861
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1437+3A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-33966783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966783
    reference: chr 17
allele count: 1
allele frequency: 8.361903169161301e-6
allele num: 119590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+4A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+4A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7173
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1437+4A>G
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-33966784-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966784
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966783
    reference: chr 17
allele count: 1
allele frequency: 8.365540664893172e-6
allele num: 119538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+7delT
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+7delT
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1437+7delT
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: GT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-33966784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966784
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966784
    reference: chr 17
allele count: 1
allele frequency: 8.365540664893172e-6
allele num: 119538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+5G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1437+5G>A
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-33966800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966800
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966800
    reference: chr 17
allele count: 1
allele frequency: 8.429144610404936e-6
allele num: 118636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+21T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+21T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14858
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-33966801-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966801
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966801
    reference: chr 17
allele count: 2
allele frequency: 1.686397517622854e-5
allele num: 118596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+22A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

17-33966809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966809
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966809
    reference: chr 17
allele count: 1
allele frequency: 8.467400508044031e-6
allele num: 118100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+30A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+30A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-33966811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966811
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966811
    reference: chr 17
allele count: 2
allele frequency: 1.69548999660902e-5
allele num: 117960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+32T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+32T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-33966823-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966823
    reference: chr 17
allele count: 23
allele frequency: 1.969211801571945e-4
allele num: 116798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+44T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+44T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8181
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-33966824-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33966824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33966825
    reference: chr 17
allele count: 2
allele frequency: 1.712710021066333e-5
allele num: 116774
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1437+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1001+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1437+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.384+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1323+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1437+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1373+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1437+49dupG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1266+49dupG
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14851
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-33968853-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968853
    reference: chr 17
allele count: 1
allele frequency: 8.966197435667533e-6
allele num: 111530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-43C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-43C>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-33968853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968853
    reference: chr 17
allele count: 1
allele frequency: 8.966197435667533e-6
allele num: 111530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-43C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-43C>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-33968861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968861
    reference: chr 17
allele count: 54
allele frequency: 4.791311754684838e-4
allele num: 112704
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-35A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-35A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23885
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-33968870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968870
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968870
    reference: chr 17
allele count: 1
allele frequency: 8.781327385447585e-6
allele num: 113878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-26C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-26C>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-33968871-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968871
    reference: chr 17
allele count: 99438
allele frequency: 8.333165728077232e-1
allele num: 119328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-25A>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-25A>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 1.75e1
  variant carriers: 5291
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 1360
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 786
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.75e1
  variant carriers: 10226
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.75e1
  variant carriers: 2882
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.25e1
  variant carriers: 1977
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.25e1
  variant carriers: 947
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 3.75e1
  variant carriers: 7053
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 3.25e1
  variant carriers: 9165
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 1.25e1
  variant carriers: 2410
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 568
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 4.25e1
  variant carriers: 4538
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 421
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 9.75e1
  variant carriers: 1202
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 2.25e1
  variant carriers: 8487
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.75e1
  variant carriers: 907
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.75e1
  variant carriers: 2742
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 6.25e1
  variant carriers: 2224
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 262
num of homozygotes: 41606
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

17-33968874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968874
    reference: chr 17
allele count: 3
allele frequency: 2.503212455985181e-5
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-22A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-22A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-33968877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968877
    reference: chr 17
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-19A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-19A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

17-33968880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968880
    reference: chr 17
allele count: 2
allele frequency: 1.667444807576869e-5
allele num: 119944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-16A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-16A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-33968881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968881
    reference: chr 17
allele count: 1
allele frequency: 8.335556148306214e-6
allele num: 119968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-15A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-15A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-33968890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968890
    reference: chr 17
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-6G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-6G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1438-6G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

17-33968890-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968890
    reference: chr 17
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1374-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1002-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1438-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.385-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1438-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1324-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1438-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1438-6G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1267-6G>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1438-6G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-33968920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968920
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1462A>G
  hgvsp: ENSP00000467883.1:p.Ile488Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1291A>G
  hgvsp: ENSP00000440563.1:p.Ile431Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1462A>G
  hgvsp: ENSP00000437413.1:p.Ile488Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1026A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.409A>G
  hgvsp: ENSP00000464966.1:p.Ile137Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1348A>G
  hgvsp: ENSP00000465316.1:p.Ile450Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1462A>G
  hgvsp: ENSP00000262325.6:p.Ile488Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1462A>G
  hgvsp: ENSP00000314414.7:p.Ile488Val
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1398A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile488Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-33968934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968934
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968934
    reference: chr 17
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1476T>C
  hgvsp: ENST00000537622.2:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1476T>C
  hgvsp: ENST00000262325.7:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1362T>C
  hgvsp: ENST00000592545.1:c.1362T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.423T>C
  hgvsp: ENST00000588116.1:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1040T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1305T>C
  hgvsp: ENST00000538556.1:c.1305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1476T>C
  hgvsp: ENST00000589344.1:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1476T>C
  hgvsp: ENST00000312678.8:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1412T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36991
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe492Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-33968944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968944
    reference: chr 17
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1372C>T
  hgvsp: ENSP00000465316.1:p.Pro458Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1050C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1315C>T
  hgvsp: ENSP00000440563.1:p.Pro439Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1486C>T
  hgvsp: ENSP00000437413.1:p.Pro496Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1486C>T
  hgvsp: ENSP00000467883.1:p.Pro496Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1486C>T
  hgvsp: ENSP00000314414.7:p.Pro496Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1486C>T
  hgvsp: ENSP00000262325.6:p.Pro496Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.433C>T
  hgvsp: ENSP00000464966.1:p.Pro145Ser
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1422C>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro496Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-33968945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968945
    reference: chr 17
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1487C>T
  hgvsp: ENSP00000467883.1:p.Pro496Leu
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.434C>T
  hgvsp: ENSP00000464966.1:p.Pro145Leu
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1487C>T
  hgvsp: ENSP00000314414.7:p.Pro496Leu
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1487C>T
  hgvsp: ENSP00000437413.1:p.Pro496Leu
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1316C>T
  hgvsp: ENSP00000440563.1:p.Pro439Leu
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1487C>T
  hgvsp: ENSP00000262325.6:p.Pro496Leu
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1423C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1051C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1373C>T
  hgvsp: ENSP00000465316.1:p.Pro458Leu
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro496Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-33968951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968951
    reference: chr 17
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1493A>G
  hgvsp: ENSP00000437413.1:p.Glu498Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1493A>G
  hgvsp: ENSP00000262325.6:p.Glu498Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1322A>G
  hgvsp: ENSP00000440563.1:p.Glu441Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1057A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.440A>G
  hgvsp: ENSP00000464966.1:p.Glu147Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1493A>G
  hgvsp: ENSP00000467883.1:p.Glu498Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1429A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1379A>G
  hgvsp: ENSP00000465316.1:p.Glu460Gly
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1493A>G
  hgvsp: ENSP00000314414.7:p.Glu498Gly
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu498Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-33968991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968991
    reference: chr 17
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1533A>G
  hgvsp: ENST00000312678.8:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1362A>G
  hgvsp: ENST00000538556.1:c.1362A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.480A>G
  hgvsp: ENST00000588116.1:c.480A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1097A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1469A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1533A>G
  hgvsp: ENST00000262325.7:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1533A>G
  hgvsp: ENST00000537622.2:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1419A>G
  hgvsp: ENST00000592545.1:c.1419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1533A>G
  hgvsp: ENST00000589344.1:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr511Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-33968999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33968999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33968999
    reference: chr 17
allele count: 1
allele frequency: 8.378718056137411e-6
allele num: 119350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+5G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+5G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1536+5G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-33969006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969006
    reference: chr 17
allele count: 1
allele frequency: 8.41651657212113e-6
allele num: 118814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+12G>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+12G>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS

17-33969014-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969014
    reference: chr 17
allele count: 492
allele frequency: 4.174515094435676e-3
allele num: 117858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+20C>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+20C>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 9.75e1
  variant carriers: 465
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 18
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-33969017-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969017
    reference: chr 17
allele count: 1
allele frequency: 8.500510030601837e-6
allele num: 117640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+23G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+23G>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-33969020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969020
    reference: chr 17
allele count: 3
allele frequency: 2.556367912469963e-5
allele num: 117354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+26G>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+26G>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19075
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

17-33969027-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969027
    reference: chr 17
allele count: 5
allele frequency: 4.288679601324344e-5
allele num: 116586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+33T>A
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+33T>A
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-33969030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969030
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969030
    reference: chr 17
allele count: 1
allele frequency: 8.619649352664333e-6
allele num: 116014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+36C>T
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+36C>T
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-33969031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969031
    reference: chr 17
allele count: 20
allele frequency: 1.740825847782188e-4
allele num: 114888
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+37T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+37T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6057
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-33969039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969039
    reference: chr 17
allele count: 2
allele frequency: 1.778093883357041e-5
allele num: 112480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+45A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+45A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-33969046-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33969046
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33969046
    reference: chr 17
allele count: 11
allele frequency: 9.854864719584304e-5
allele num: 111620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1536+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1472+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.483+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1536+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1536+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1365+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1100+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1422+52G>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1536+52G>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-33977498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33977498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33977498
    reference: chr 17
allele count: 3
allele frequency: 2.556193657231472e-5
allele num: 117362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1537-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.484-124T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1537-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1366-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1537-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1473-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1101-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1537-51T>C
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1423-51T>C
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-33977500-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33977500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33977500
    reference: chr 17
allele count: 1
allele frequency: 8.524422470377632e-6
allele num: 117310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1423-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1537-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.484-122T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1101-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1366-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1537-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1537-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1473-49T>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1537-49T>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39128
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

17-33977501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33977501
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33977501
    reference: chr 17
allele count: 1
allele frequency: 8.521807304893222e-6
allele num: 117346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.484-121A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1537-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1537-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1537-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1537-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1101-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1366-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1423-48A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1473-48A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-33977502-TGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33977502
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33977500
    reference: chr 17
allele count: 22
allele frequency: 1.874382305831033e-4
allele num: 117372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1101-46_1101-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.484-119_484-118delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1537-46_1537-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1537-46_1537-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1537-46_1537-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1473-46_*1473-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1537-46_1537-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1366-46_1366-45delGG
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1423-46_1423-45delGG
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TGG
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-33977508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33977508
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 33977508
    reference: chr 17
allele count: 1
allele frequency: 8.512087163772557e-6
allele num: 117480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000440563
  ensembl transcript: ENST00000538556
  gene symbol: AP2B1
  hgvsc: ENST00000538556.1:c.1366-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000437413
  ensembl transcript: ENST00000537622
  gene symbol: AP2B1
  hgvsc: ENST00000537622.2:c.1537-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000464966
  ensembl transcript: ENST00000588116
  gene symbol: AP2B1
  hgvsc: ENST00000588116.1:c.484-114A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000314414
  ensembl transcript: ENST00000312678
  gene symbol: AP2B1
  hgvsc: ENST00000312678.8:c.1537-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000468222
  ensembl transcript: ENST00000592191
  gene symbol: AP2B1
  hgvsc: ENST00000592191.1:c.*1473-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000467883
  ensembl transcript: ENST00000589344
  gene symbol: AP2B1
  hgvsc: ENST00000589344.1:c.1537-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl transcript: ENST00000545922
  gene symbol: AP2B1
  hgvsc: ENST00000545922.2:n.1101-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000262325
  ensembl transcript: ENST00000262325
  gene symbol: AP2B1
  hgvsc: ENST00000262325.7:c.1537-41A>G
  variant of: http://identifiers.org/hgnc/563
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006125
  ensembl protein: ENSP00000465316
  ensembl transcript: ENST00000592545
  gene symbol: AP2B1
  hgvsc: ENST00000592545.1:c.1423-41A>G
  variant of: http://identifiers.org/hgnc/563
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 3286
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variant carriers: 57

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510871199591014e-5
allele num: 66506
num of homozygotes: 0

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

African
type: Population
allele count: 52
allele frequency: 5.015432098765432e-3
allele num: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743375174337517e-4
allele num: 11472
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.142e0

DP
type: SiteQuality
SIO_000300: 1.564525e6

FS
type: SiteQuality
SIO_000300: 1.126e0

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: -3.088e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

DP
type: SiteQuality
SIO_000300: 1.558828e6

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
all individuals: 3237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526857422053929e-5
allele num: 65494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 4.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.534689e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540927021696253e-5
allele num: 64896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: -8.747e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

QD
type: SiteQuality
SIO_000300: 7.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.512032e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 3239
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.754810283069705e-5
allele num: 63094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 1.658e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.433916e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.017293997965412e-4
allele num: 9830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.574e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.215e0

DP
type: SiteQuality
SIO_000300: 1.320089e6

QD
type: SiteQuality
SIO_000300: 1.821e1

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: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.547073458164201e-5
allele num: 15274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 1.168e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

DP
type: SiteQuality
SIO_000300: 1.307377e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

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

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60832
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.971e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.287252e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3234
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GenotypeQuality
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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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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.474876641879213e-5
allele num: 57556
num of homozygotes: 0

East Asian
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Other
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African
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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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ReadPosRankSum
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QD
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MQ
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DP
type: SiteQuality
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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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European (Non-Finnish)
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allele num: 56652
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East Asian
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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Other
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African
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allele frequency: 1.078050884001725e-4
allele num: 9276
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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InbreedingCoeff
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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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Latino
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num of homozygotes: 0

African
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European (Non-Finnish)
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Other
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South Asian
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allele num: 11886
num of homozygotes: 0

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

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

African
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East Asian
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Other
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South Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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QD
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FS
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BaseQRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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South Asian
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ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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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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European (Finnish)
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African
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East Asian
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Other
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Latino
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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QD
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MQ
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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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East Asian
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South Asian
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Latino
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African
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 2.085569e6

GenotypeQuality
all individuals: 2128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14868
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
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: 2
allele frequency: 3.04302842188546e-5
allele num: 65724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 2.090507e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

QD
type: SiteQuality
SIO_000300: 1.178e1

GenotypeQuality
all individuals: 4890
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.958480219349785e-4
allele num: 10212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 2.095196e6

FS
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

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

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 609

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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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
all individuals: 2225
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variant carriers: 0

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

East Asian
type: Population
allele count: 500
allele frequency: 5.784359093012494e-2
allele num: 8644
num of homozygotes: 16

European (Finnish)
type: Population
allele count: 62
allele frequency: 9.37405503477472e-3
allele num: 6614
num of homozygotes: 2

South Asian
type: Population
allele count: 12
allele frequency: 7.676560900716479e-4
allele num: 15632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.454342984409799e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.682342662609586e-4
allele num: 66386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.416e0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 2.151656e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
all individuals: 7345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3277
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 14884
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 2256
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.100462101662366e-4
allele num: 66652
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: 16452
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: 15
allele frequency: 1.442030378773313e-3
allele num: 10402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.141475e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 2256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14865
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variant carriers: 1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3281
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GenotypeQuality
all individuals: 4911
bin: 7.75e1
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

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

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: 66690
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.192e0

VQSLOD
type: SiteQuality
SIO_000300: -2.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 2.001e1

DP
type: SiteQuality
SIO_000300: 2.141384e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.022e0

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

GenotypeQuality
all individuals: 7362
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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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: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.675e0

DP
type: SiteQuality
SIO_000300: 2.141343e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -4.328e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.195e1

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
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: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.141577e6

VQSLOD
type: SiteQuality
SIO_000300: -8.984e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.134e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

GenotypeQuality
all individuals: 1
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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: 0

GenotypeQuality
all individuals: 4485
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

Other
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allele frequency: 0.0e0
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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 frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

DP
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.132e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 15728
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.033e1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.585e0

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

East Asian
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allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.039923896958899e-5
allele num: 66226
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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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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South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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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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DP
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6612
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 num: 66188
num of homozygotes: 0

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

Latino
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African
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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DP
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FS
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QD
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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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African
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Other
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Latino
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South Asian
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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DP
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MQ
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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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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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Latino
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African
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South Asian
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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SIO_000300: -2.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.146e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
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
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 14694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033888534935227e-5
allele num: 65922
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 7.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

QD
type: SiteQuality
SIO_000300: 1.402e1

DP
type: SiteQuality
SIO_000300: 2.081223e6

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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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: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.735202492211838e-5
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

DP
type: SiteQuality
SIO_000300: 2.070533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 3105
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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: 14340
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variant carriers: 0

GenotypeQuality
all individuals: 6894
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 7.526e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.599e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 2.067551e6

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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variant carriers: 23

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

GenotypeQuality
all individuals: 3082
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variant carriers: 0

GenotypeQuality
all individuals: 4753
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.208065994500458e-4
allele num: 65460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.041207e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

GenotypeQuality
all individuals: 4752
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.325040688212044e-4
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.149e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 4.523e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 2.040729e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6427
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62638649448655e-5
allele num: 61486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.397238e6

GenotypeQuality
all individuals: 2726
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5326
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.64982045484772e-5
allele num: 15038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.397238e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.002e1

GenotypeQuality
all individuals: 3519
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
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GenotypeQuality
all individuals: 1578
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 2215
bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 2251
bin: 7.25e1
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GenotypeQuality
all individuals: 5412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6505
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 20661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 42
allele frequency: 4.518072289156626e-3
allele num: 9296
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.882175795219273e-4
allele num: 10626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.28708411094665e-4
allele num: 62156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.570302233902759e-5
allele num: 15220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.465645e6

GenotypeQuality
all individuals: 1482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 9.25e1
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GenotypeQuality
all individuals: 6521
bin: 9.75e1
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GenotypeQuality
all individuals: 234
bin: 5.75e1
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GenotypeQuality
all individuals: 761
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
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GenotypeQuality
all individuals: 2506
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59073555612115e-5
allele num: 62864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

DP
type: SiteQuality
SIO_000300: 1.531648e6

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.261e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
all individuals: 398
bin: 2.25e1
variant carriers: 284

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 58

GenotypeQuality
all individuals: 1352
bin: 4.75e1
variant carriers: 1310

GenotypeQuality
all individuals: 1473
bin: 7.25e1
variant carriers: 1419

GenotypeQuality
all individuals: 1475
bin: 8.75e1
variant carriers: 1462

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 50

GenotypeQuality
all individuals: 2594
bin: 6.75e1
variant carriers: 2423

GenotypeQuality
all individuals: 36010
bin: 9.75e1
variant carriers: 35908

GenotypeQuality
all individuals: 712
bin: 3.25e1
variant carriers: 642

GenotypeQuality
all individuals: 2909
bin: 8.25e1
variant carriers: 2870

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 2650

GenotypeQuality
all individuals: 1091
bin: 5.75e1
variant carriers: 1064

GenotypeQuality
all individuals: 1653
bin: 5.25e1
variant carriers: 1622

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 138

GenotypeQuality
all individuals: 579
bin: 4.25e1
variant carriers: 539

African
type: Population
allele count: 9791
allele frequency: 9.70366699702676e-1
allele num: 10090
num of homozygotes: 4753

European (Non-Finnish)
type: Population
allele count: 53537
allele frequency: 8.151187576126675e-1
allele num: 65680
num of homozygotes: 21773

European (Finnish)
type: Population
allele count: 5496
allele frequency: 8.365296803652968e-1
allele num: 6570
num of homozygotes: 2294

Latino
type: Population
allele count: 9377
allele frequency: 8.287961817217606e-1
allele num: 11314
num of homozygotes: 3864

Other
type: Population
allele count: 732
allele frequency: 8.299319727891157e-1
allele num: 882
num of homozygotes: 301

South Asian
type: Population
allele count: 12199
allele frequency: 7.533036927257009e-1
allele num: 16194
num of homozygotes: 4607

East Asian
type: Population
allele count: 8306
allele frequency: 9.66038613631077e-1
allele num: 8598
num of homozygotes: 4014

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.77e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.095104e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

QD
type: SiteQuality
SIO_000300: 3.127e1

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

GenotypeQuality
all individuals: 1973
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4891
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-5
allele num: 66060
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16827041697508e-5
allele num: 16212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 1.605e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.727345e6

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

VQSLOD
type: SiteQuality
SIO_000300: -2.054e-1

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
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variant carriers: 1

GenotypeQuality
all individuals: 907
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GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 2549
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variant carriers: 0

GenotypeQuality
all individuals: 710
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GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 1141
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variant carriers: 0

GenotypeQuality
all individuals: 29711
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variant carriers: 0

GenotypeQuality
all individuals: 867
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variant carriers: 0

GenotypeQuality
all individuals: 9253
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variant carriers: 0

GenotypeQuality
all individuals: 979
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variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.539e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.086e0

DP
type: SiteQuality
SIO_000300: 1.73219e6

FS
type: SiteQuality
SIO_000300: 3.611e0

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 8.4e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

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

GenotypeQuality
all individuals: 1253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 2761
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variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9257
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variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 31128
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variant carriers: 0

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66116
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.812e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

FS
type: SiteQuality
SIO_000300: 1.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.738122e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
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variant carriers: 0

GenotypeQuality
all individuals: 907
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variant carriers: 0

GenotypeQuality
all individuals: 2750
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variant carriers: 0

GenotypeQuality
all individuals: 2530
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variant carriers: 0

GenotypeQuality
all individuals: 4876
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variant carriers: 1

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 1009
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variant carriers: 0

GenotypeQuality
all individuals: 9255
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.825e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
type: SiteQuality
SIO_000300: 1.739417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.465e0

QD
type: SiteQuality
SIO_000300: 2.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
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GenotypeQuality
all individuals: 9276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
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GenotypeQuality
all individuals: 205
bin: 5.25e1
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GenotypeQuality
all individuals: 2503
bin: 7.25e1
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GenotypeQuality
all individuals: 33822
bin: 6.25e1
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GenotypeQuality
all individuals: 709
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GenotypeQuality
all individuals: 1711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

FS
type: SiteQuality
SIO_000300: 8.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.755741e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
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GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.75e1
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GenotypeQuality
all individuals: 2726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.152331733727083e-5
allele num: 16254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.398e0

FS
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 1.755741e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 98
bin: 5.25e1
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GenotypeQuality
all individuals: 33
bin: 4.25e1
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GenotypeQuality
all individuals: 9506
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
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GenotypeQuality
all individuals: 2536
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 4858
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GenotypeQuality
all individuals: 969
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GenotypeQuality
all individuals: 36621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
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

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

ClippingRankSum
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SIO_000300: 1.81e0

ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: 1.24e0

InbreedingCoeff
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SIO_000300: 1.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
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ClippingRankSum
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SIO_000300: 1.59e0

MQRankSum
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SIO_000300: -9.81e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-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: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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: -2.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
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SIO_000300: 1.791239e6

VQSLOD
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SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 1.791403e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.791754e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 3.394e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
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DP
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SIO_000300: 1.774113e6

MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529332599253686e-5
allele num: 65388
num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8544
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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QD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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SIO_000300: 8.311e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 2
allele frequency: 2.262443438914027e-3
allele num: 884
num of homozygotes: 0

African
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allele count: 459
allele frequency: 4.621425694724124e-2
allele num: 9932
num of homozygotes: 18

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.234072748588529e-4
allele num: 64826
num of homozygotes: 0

Latino
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allele count: 23
allele frequency: 2.05650929899857e-3
allele num: 11184
num of homozygotes: 0

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

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

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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SIO_000300: 2.24e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64720
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

African
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allele frequency: 1.011736139214893e-4
allele num: 9884
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

VQSLOD
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SIO_000300: -1.897e0

BaseQRankSum
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FS
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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QD
type: SiteQuality
SIO_000300: 2.105e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9852
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.647560030983733e-5
allele num: 64550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
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InbreedingCoeff
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QD
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DP
type: SiteQuality
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MQRankSum
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SIO_000300: 9.21e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.794961336991769e-5
allele num: 64144
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.545128e6

VQSLOD
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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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566956031213764e-5
allele num: 63818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.511792e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.26984126984127e-3
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63158
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 1.869857890800299e-4
allele num: 10696
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East Asian
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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 frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61550
num of homozygotes: 0

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

European (Finnish)
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allele num: 6364
num of homozygotes: 0

East Asian
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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

African
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 4.914165902240859e-5
allele num: 61048
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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bin: 6.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

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

East Asian
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allele frequency: 3.478664192949907e-4
allele num: 8624
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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QD
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GenotypeQuality
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.230082e6

MQ
type: SiteQuality
SIO_000300: 5.815e1

QD
type: SiteQuality
SIO_000300: 1.339e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.941e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.187e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.714e0

GenotypeQuality
all individuals: 2695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39129
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13612
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65726
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

DP
type: SiteQuality
SIO_000300: 3.230358e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 1.449e1

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39148
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 1587
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.345905827959606e-4
allele num: 65752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.893e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

DP
type: SiteQuality
SIO_000300: 3.230705e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 1.669e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1