17-67256555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256555
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 105470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-2A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-2A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-2A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-2A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-2A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-2A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14827
  bin: 2.25e1
  variant carriers: 0
hgvs: c.3565-2A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-67256565-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256565
    reference: chr 17
allele count: 1
allele frequency: 9.855129594954174e-6
allele num: 101470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-12T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-12T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-12T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-12T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-12T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-12T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-67256571-GAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256567
    reference: chr 17
allele count: 1
allele frequency: 1.005388884420494e-5
allele num: 99464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-22_3565-19delTTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-22_*1331-19delTTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-22_3565-19delTTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-22_463-19delTTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-22_3568-19delTTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-22_*1315-19delTTTT
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: GAAAA
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-67256582-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256582
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256582
    reference: chr 17
allele count: 5
allele frequency: 5.278381859257226e-5
allele num: 94726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-29G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-29G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-29G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-29G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-29G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-29G>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22690
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-67256582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256582
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256582
    reference: chr 17
allele count: 157
allele frequency: 1.657411903806769e-3
allele num: 94726
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-29G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-29G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-29G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-29G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-29G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-29G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 22690
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 9.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 11574
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 2
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-67256583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256583
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256583
    reference: chr 17
allele count: 1
allele frequency: 1.069564473346453e-5
allele num: 93496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-30C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-30C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-30C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-30C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-30C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-30C>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

17-67256589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256589
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256589
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 88258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-36T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-67256590-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67256590
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67256590
    reference: chr 17
allele count: 58
allele frequency: 6.570004531037608e-4
allele num: 88280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1315-37A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3568-37A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1331-37A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.463-37A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3565-37A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3565-37A>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21311
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20517
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-67257224-ATTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257220
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 19538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3567+38_3567+41delAAAA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1330+38_*1330+41delAAAA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.462+38_462+41delAAAA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3564+38_3564+41delAAAA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1314+38_*1314+41delAAAA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3564+38_3564+41delAAAA
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31700
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6993
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: ATTTT
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-67257231-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257232
    reference: chr 17
allele count: 1
allele frequency: 5.102561485865905e-5
allele num: 19598
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3564+34dupA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1330+34dupA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.462+34dupA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3567+34dupA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1314+34dupA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3564+34dupA
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-67257246-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257246
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257246
    reference: chr 17
allele count: 2
allele frequency: 9.739943508327652e-5
allele num: 20534
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3564+20T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.462+20T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1314+20T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3567+20T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3564+20T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1330+20T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32076
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30332
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-67257261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257261
    reference: chr 17
allele count: 1
allele frequency: 4.085968783198496e-5
allele num: 24474
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3564+5T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3564+5T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1330+5T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3567+5T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1314+5T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.462+5T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18951
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3564+5T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-67257281-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257281
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257281
    reference: chr 17
allele count: 6
allele frequency: 1.383891502906172e-4
allele num: 43356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.447G>C
  hgvsp: ENST00000586811.1:c.447G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3549G>C
  hgvsp: ENST00000392676.3:c.3549G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3549G>C
  hgvsp: ENST00000588877.1:c.3549G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1299G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3552G>C
  hgvsp: ENST00000392677.2:c.3552G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1315G>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1183Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

17-67257281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257281
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257281
    reference: chr 17
allele count: 5548
allele frequency: 1.279638343020574e-1
allele num: 43356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1315G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3552G>A
  hgvsp: ENST00000392677.2:c.3552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3549G>A
  hgvsp: ENST00000392676.3:c.3549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3549G>A
  hgvsp: ENST00000588877.1:c.3549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1299G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.447G>A
  hgvsp: ENST00000586811.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 2.5e0
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 32587
  bin: 7.5e0
  variant carriers: 1430
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 2.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.75e1
  variant carriers: 1239
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 1.25e1
  variant carriers: 2273
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 7.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 6.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 29858
  bin: 2.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 72
hgvs: p.Leu1183Leu
num of homozygotes: 215
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-67257288-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257288
    reference: chr 17
allele count: 2
allele frequency: 3.888176056611844e-5
allele num: 51438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3545G>C
  hgvsp: ENSP00000376444.2:p.Gly1182Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3542G>C
  hgvsp: ENSP00000467882.1:p.Gly1181Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1292G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.440G>C
  hgvsp: ENSP00000465351.1:p.Gly147Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3542G>C
  hgvsp: ENSP00000376443.2:p.Gly1181Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1308G>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1181Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-67257295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257295
    reference: chr 17
allele count: 1
allele frequency: 1.714148582399122e-5
allele num: 58338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3535C>T
  hgvsp: ENSP00000376443.2:p.Leu1179Phe
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1285C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3535C>T
  hgvsp: ENSP00000467882.1:p.Leu1179Phe
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.433C>T
  hgvsp: ENSP00000465351.1:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3538C>T
  hgvsp: ENSP00000376444.2:p.Leu1180Phe
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1301C>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1179Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-67257305-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257305
    reference: chr 17
allele count: 1
allele frequency: 1.454291614554551e-5
allele num: 68762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1275A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1291A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3525A>T
  hgvsp: ENST00000588877.1:c.3525A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.423A>T
  hgvsp: ENST00000586811.1:c.423A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3525A>T
  hgvsp: ENST00000392676.3:c.3525A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3528A>T
  hgvsp: ENST00000392677.2:c.3528A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20984
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1175Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-67257313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257313
    reference: chr 17
allele count: 37
allele frequency: 4.765953061802818e-4
allele num: 77634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1283A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1267A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3517A>G
  hgvsp: ENSP00000467882.1:p.Ile1173Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.415A>G
  hgvsp: ENSP00000465351.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3517A>G
  hgvsp: ENSP00000376443.2:p.Ile1173Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3520A>G
  hgvsp: ENSP00000376444.2:p.Ile1174Val
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23224
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1173Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-67257319-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257319
    reference: chr 17
allele count: 3
allele frequency: 3.549371761198268e-5
allele num: 84522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1277T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.409T>G
  hgvsp: ENSP00000465351.1:p.Cys137Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3514T>G
  hgvsp: ENSP00000376444.2:p.Cys1172Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3511T>G
  hgvsp: ENSP00000467882.1:p.Cys1171Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3511T>G
  hgvsp: ENSP00000376443.2:p.Cys1171Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1261T>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys1171Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-67257324-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257324
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257324
    reference: chr 17
allele count: 1
allele frequency: 1.093756835980225e-5
allele num: 91428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3506C>G
  hgvsp: ENSP00000467882.1:p.Ala1169Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3506C>G
  hgvsp: ENSP00000376443.2:p.Ala1169Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3509C>G
  hgvsp: ENSP00000376444.2:p.Ala1170Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1256C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.404C>G
  hgvsp: ENSP00000465351.1:p.Ala135Gly
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1272C>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1169Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-67257330-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257330
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257330
    reference: chr 17
allele count: 8
allele frequency: 8.090287609724525e-5
allele num: 98884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3500A>G
  hgvsp: ENSP00000467882.1:p.His1167Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1266A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3500A>G
  hgvsp: ENSP00000376443.2:p.His1167Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.398A>G
  hgvsp: ENSP00000465351.1:p.His133Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3503A>G
  hgvsp: ENSP00000376444.2:p.His1168Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1250A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33222
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1167Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-67257337-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257337
    reference: chr 17
allele count: 3
allele frequency: 2.847218267752406e-5
allele num: 105366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.391A>C
  hgvsp: ENSP00000465351.1:p.Ile131Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1243A>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3493A>C
  hgvsp: ENSP00000376443.2:p.Ile1165Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3493A>C
  hgvsp: ENSP00000467882.1:p.Ile1165Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3496A>C
  hgvsp: ENSP00000376444.2:p.Ile1166Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1259A>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile1165Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

17-67257346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257346
    reference: chr 17
allele count: 5
allele frequency: 4.563959325994487e-5
allele num: 109554
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3484A>G
  hgvsp: ENSP00000376443.2:p.Ile1162Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1234A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3487A>G
  hgvsp: ENSP00000376444.2:p.Ile1163Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.382A>G
  hgvsp: ENSP00000465351.1:p.Ile128Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3484A>G
  hgvsp: ENSP00000467882.1:p.Ile1162Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1250A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38875
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1162Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-67257355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257355
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257355
    reference: chr 17
allele count: 271
allele frequency: 2.414296913976196e-3
allele num: 112248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3478G>A
  hgvsp: ENSP00000376444.2:p.Gly1160Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3475G>A
  hgvsp: ENSP00000467882.1:p.Gly1159Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.373G>A
  hgvsp: ENSP00000465351.1:p.Gly125Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1241G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3475G>A
  hgvsp: ENSP00000376443.2:p.Gly1159Arg
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1225G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39754
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Gly1159Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-67257358-TAAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257358
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257354
    reference: chr 17
allele count: 1
allele frequency: 8.861791499769594e-6
allele num: 112844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1218_*1221delCTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3468_3471delCTTT
  hgvsp: ENSP00000376443.2:p.Phe1156LeufsTer24
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3471_3474delCTTT
  hgvsp: ENSP00000376444.2:p.Phe1157LeufsTer24
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3468_3471delCTTT
  hgvsp: ENSP00000467882.1:p.Phe1156LeufsTer24
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1234_*1237delCTTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.366_369delCTTT
  hgvsp: ENSP00000465351.1:p.Phe122LeufsTer24
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe1156LeufsTer24
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: TAAAG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-67257366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257366
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257366
    reference: chr 17
allele count: 1
allele frequency: 8.760556470547009e-6
allele num: 114148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1230C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1214C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.362C>T
  hgvsp: ENSP00000465351.1:p.Thr121Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3464C>T
  hgvsp: ENSP00000376443.2:p.Thr1155Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3464C>T
  hgvsp: ENSP00000467882.1:p.Thr1155Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3467C>T
  hgvsp: ENSP00000376444.2:p.Thr1156Ile
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1155Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

17-67257377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257377
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257377
    reference: chr 17
allele count: 1
allele frequency: 8.695349726966019e-6
allele num: 115004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1219C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3453C>T
  hgvsp: ENST00000392676.3:c.3453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.351C>T
  hgvsp: ENST00000586811.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1203C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3456C>T
  hgvsp: ENST00000392677.2:c.3456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3453C>T
  hgvsp: ENST00000588877.1:c.3453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1151Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-67257380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257380
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257380
    reference: chr 17
allele count: 2
allele frequency: 1.737257218303742e-5
allele num: 115124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3453A>G
  hgvsp: ENST00000392677.2:c.3453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.348A>G
  hgvsp: ENST00000586811.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3450A>G
  hgvsp: ENST00000588877.1:c.3450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1216A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1200A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3450A>G
  hgvsp: ENST00000392676.3:c.3450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1150Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-67257387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257387
    reference: chr 17
allele count: 2
allele frequency: 1.738072477622317e-5
allele num: 115070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3443G>A
  hgvsp: ENSP00000376443.2:p.Cys1148Tyr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3443G>A
  hgvsp: ENSP00000467882.1:p.Cys1148Tyr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1193G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.341G>A
  hgvsp: ENSP00000465351.1:p.Cys114Tyr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3446G>A
  hgvsp: ENSP00000376444.2:p.Cys1149Tyr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1209G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys1148Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-67257391-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257391
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257391
    reference: chr 17
allele count: 2
allele frequency: 1.739221176757048e-5
allele num: 114994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3442G>C
  hgvsp: ENSP00000376444.2:p.Ala1148Pro
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1189G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3439G>C
  hgvsp: ENSP00000467882.1:p.Ala1147Pro
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3439G>C
  hgvsp: ENSP00000376443.2:p.Ala1147Pro
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1205G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.337G>C
  hgvsp: ENSP00000465351.1:p.Ala113Pro
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1147Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-67257391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257391
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257391
    reference: chr 17
allele count: 3
allele frequency: 2.608831765135572e-5
allele num: 114994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1205G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3442G>A
  hgvsp: ENSP00000376444.2:p.Ala1148Thr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.337G>A
  hgvsp: ENSP00000465351.1:p.Ala113Thr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1189G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3439G>A
  hgvsp: ENSP00000467882.1:p.Ala1147Thr
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3439G>A
  hgvsp: ENSP00000376443.2:p.Ala1147Thr
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1147Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-67257395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257395
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257395
    reference: chr 17
allele count: 2
allele frequency: 1.744257033716489e-5
allele num: 114662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.333G>A
  hgvsp: ENST00000586811.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1201G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1185G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3438G>A
  hgvsp: ENST00000392677.2:c.3438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3435G>A
  hgvsp: ENST00000392676.3:c.3435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3435G>A
  hgvsp: ENST00000588877.1:c.3435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1145Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS

17-67257396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257396
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257396
    reference: chr 17
allele count: 20
allele frequency: 1.748557440111908e-4
allele num: 114380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1200C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3434C>T
  hgvsp: ENSP00000467882.1:p.Ala1145Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3434C>T
  hgvsp: ENSP00000376443.2:p.Ala1145Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3437C>T
  hgvsp: ENSP00000376444.2:p.Ala1146Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.332C>T
  hgvsp: ENSP00000465351.1:p.Ala111Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1184C>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37918
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1145Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-67257410-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257410
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257410
    reference: chr 17
allele count: 2
allele frequency: 1.76941043244391e-5
allele num: 113032
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-10T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-10T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-10T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-10T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-10T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-10T>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-67257410-AAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257410
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257406
    reference: chr 17
allele count: 5
allele frequency: 4.423526081109774e-5
allele num: 113032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-14_*1196-11delATTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-14_3433-11delATTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-14_328-11delATTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-14_*1180-11delATTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-14_3430-11delATTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-14_3430-11delATTT
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 40533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: AAAAT
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-67257414-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257414
    reference: chr 17
allele count: 1
allele frequency: 8.872957001650369e-6
allele num: 112702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-14A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-14A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-14A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-14A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-14A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-14A>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33360
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

17-67257428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257428
    reference: chr 17
allele count: 30
allele frequency: 2.688364757330275e-4
allele num: 111592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-28A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-28A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-28A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-28A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-28A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-28A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27994
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 31947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-67257431-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257429
    reference: chr 17
allele count: 3
allele frequency: 2.699589662371319e-5
allele num: 111128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-33_*1196-32delTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-33_3433-32delTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-33_328-32delTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-33_*1180-32delTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-33_3430-32delTT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-33_3430-32delTT
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: CAA
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-67257436-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257436
    reference: chr 17
allele count: 1
allele frequency: 9.007061536244416e-6
allele num: 111024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-36A>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-36A>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-36A>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-36A>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-36A>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-36A>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

17-67257438-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257438
    reference: chr 17
allele count: 2
allele frequency: 1.807272464396732e-5
allele num: 110664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.328-38A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3430-38A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1180-38A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1196-38A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3433-38A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3430-38A>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

17-67257737-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257737
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257737
    reference: chr 17
allele count: 1
allele frequency: 4.125072188763303e-5
allele num: 24242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.327+39G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3429+39G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1179+39G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1195+39G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3429+39G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3432+39G>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23640
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5965
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

17-67257740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257740
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 24434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1179+36G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3432+36G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3429+36G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.327+36G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1195+36G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3429+36G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-67257749-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257749
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257749
    reference: chr 17
allele count: 2
allele frequency: 7.793624814901411e-5
allele num: 25662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1179+27C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3429+27C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3432+27C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.327+27C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3429+27C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1195+27C>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27961
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-67257750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257750
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257750
    reference: chr 17
allele count: 2
allele frequency: 7.740537193281214e-5
allele num: 25838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3432+26A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3429+26A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3429+26A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.327+26A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1179+26A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1195+26A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-67257753-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257753
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257753
    reference: chr 17
allele count: 1
allele frequency: 3.804017041996348e-5
allele num: 26288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1195+23T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3432+23T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.327+23T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1179+23T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3429+23T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3429+23T>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-67257799-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257799
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257798
    reference: chr 17
allele count: 2
allele frequency: 4.483902788987535e-5
allele num: 44604
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3405delA
  hgvsp: ENSP00000376443.2:p.Glu1135AspfsTer20
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1155delA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3408delA
  hgvsp: ENSP00000376444.2:p.Glu1136AspfsTer20
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1171delA
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3405delA
  hgvsp: ENSP00000467882.1:p.Glu1135AspfsTer20
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.303delA
  hgvsp: ENSP00000465351.1:p.Glu101AspfsTer20
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11023
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1135AspfsTer20
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: AT
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-67257807-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257807
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257807
    reference: chr 17
allele count: 1
allele frequency: 2.001280819724624e-5
allele num: 49968
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3398C>G
  hgvsp: ENSP00000376443.2:p.Thr1133Ser
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3398C>G
  hgvsp: ENSP00000467882.1:p.Thr1133Ser
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3401C>G
  hgvsp: ENSP00000376444.2:p.Thr1134Ser
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.296C>G
  hgvsp: ENSP00000465351.1:p.Thr99Ser
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1164C>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1148C>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14410
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1133Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-67257812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257812
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257812
    reference: chr 17
allele count: 540
allele frequency: 1.016681101027977e-2
allele num: 53114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3396A>G
  hgvsp: ENST00000392677.2:c.3396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3393A>G
  hgvsp: ENST00000588877.1:c.3393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1143A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3393A>G
  hgvsp: ENST00000392676.3:c.3393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.291A>G
  hgvsp: ENST00000586811.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1159A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15373
  bin: 2.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 1.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 31157
  bin: 7.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 2
hgvs: p.Leu1131Leu
num of homozygotes: 14
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-67257814-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257814
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257814
    reference: chr 17
allele count: 1
allele frequency: 1.854255516410161e-5
allele num: 53930
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3391T>G
  hgvsp: ENSP00000376443.2:p.Leu1131Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.289T>G
  hgvsp: ENSP00000465351.1:p.Leu97Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3394T>G
  hgvsp: ENSP00000376444.2:p.Leu1132Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3391T>G
  hgvsp: ENSP00000467882.1:p.Leu1131Val
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1157T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1141T>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1131Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-67257830-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257830
    reference: chr 17
allele count: 1
allele frequency: 1.556420233463035e-5
allele num: 64250
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3375C>A
  hgvsp: ENSP00000376443.2:p.Phe1125Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3378C>A
  hgvsp: ENSP00000376444.2:p.Phe1126Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1125C>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.273C>A
  hgvsp: ENSP00000465351.1:p.Phe91Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3375C>A
  hgvsp: ENSP00000467882.1:p.Phe1125Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1141C>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1125Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-67257835-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257835
    reference: chr 17
allele count: 1
allele frequency: 1.524762137106611e-5
allele num: 65584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1136T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3373T>G
  hgvsp: ENSP00000376444.2:p.Ser1125Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3370T>G
  hgvsp: ENSP00000467882.1:p.Ser1124Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.268T>G
  hgvsp: ENSP00000465351.1:p.Ser90Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3370T>G
  hgvsp: ENSP00000376443.2:p.Ser1124Ala
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1120T>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1124Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-67257842-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257842
    reference: chr 17
allele count: 8
allele frequency: 1.204492757987293e-4
allele num: 66418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.261T>C
  hgvsp: ENST00000586811.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1129T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3363T>C
  hgvsp: ENST00000588877.1:c.3363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3363T>C
  hgvsp: ENST00000392676.3:c.3363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1113T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3366T>C
  hgvsp: ENST00000392677.2:c.3366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr1121Tyr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-67257850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257850
    reference: chr 17
allele count: 4
allele frequency: 6.017390257845172e-5
allele num: 66474
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3355T>C
  hgvsp: ENSP00000376443.2:p.Phe1119Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3358T>C
  hgvsp: ENSP00000376444.2:p.Phe1120Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3355T>C
  hgvsp: ENSP00000467882.1:p.Phe1119Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1105T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.253T>C
  hgvsp: ENSP00000465351.1:p.Phe85Leu
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1121T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25546
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe1119Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-67257851-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257851
    reference: chr 17
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1120G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3354G>T
  hgvsp: ENST00000392676.3:c.3354G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.252G>T
  hgvsp: ENST00000586811.1:c.252G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1104G>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3354G>T
  hgvsp: ENST00000588877.1:c.3354G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3357G>T
  hgvsp: ENST00000392677.2:c.3357G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1118Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-67257872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257872
    reference: chr 17
allele count: 1
allele frequency: 1.67117884956048e-5
allele num: 59838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3333T>C
  hgvsp: ENST00000392676.3:c.3333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1083T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3336T>C
  hgvsp: ENST00000392677.2:c.3336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1099T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3333T>C
  hgvsp: ENST00000588877.1:c.3333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.231T>C
  hgvsp: ENST00000586811.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1111Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-67257889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257889
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257889
    reference: chr 17
allele count: 9
allele frequency: 1.796694082887487e-4
allele num: 50092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214G>A
  hgvsp: ENSP00000465351.1:p.Val72Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319G>A
  hgvsp: ENSP00000376444.2:p.Val1107Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316G>A
  hgvsp: ENSP00000376443.2:p.Val1106Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316G>A
  hgvsp: ENSP00000467882.1:p.Val1106Ile
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28288
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1106Ile
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

17-67257892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257892
    reference: chr 17
allele count: 1
allele frequency: 2.098459730557771e-5
allele num: 47654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-3C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-3C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-3C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-3C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-3C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-3C>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28081
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3316-3C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-67257902-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257900
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 39936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-15_214-14delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-15_3316-14delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-15_3316-14delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-15_*1082-14delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-15_*1066-14delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-15_3319-14delAT
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26978
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AAT
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

17-67257903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257903
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257903
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 36362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-14T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-14T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-14T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-14T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-14T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-14T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26160
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

17-67257905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257905
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 36426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-16T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-16T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-16T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-16T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-16T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-16T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26266
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31644
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-67257912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257912
    reference: chr 17
allele count: 1
allele frequency: 3.237922548892631e-5
allele num: 30884
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-23A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-23A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-23A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-23A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-23A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-23A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24874
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-67257915-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257915
    reference: chr 17
allele count: 1
allele frequency: 3.449465332873405e-5
allele num: 28990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-26T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-26T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-26T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-26T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-26T>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-26T>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-67257919-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257919
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 26910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-30T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-30T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-30T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-30T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-30T>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-30T>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23989
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-67257925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257925
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 20764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-36T>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-36T>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24612
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-67257926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257926
    reference: chr 17
allele count: 1
allele frequency: 4.8661800486618e-5
allele num: 20550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-37A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-37A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-37A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-37A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-37A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-37A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24646
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24651
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-67257929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257929
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257929
    reference: chr 17
allele count: 6
allele frequency: 3.026634382566586e-4
allele num: 19824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-40G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-40G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-40G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-40G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-40G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-40G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24786
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-67257936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257936
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257936
    reference: chr 17
allele count: 1
allele frequency: 5.761696243374049e-5
allele num: 17356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-47A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-47A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-47A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-47A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-47A>G
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-47A>G
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-67257938-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257938
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257938
    reference: chr 17
allele count: 1
allele frequency: 5.993766482857828e-5
allele num: 16684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-49G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-49G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-49G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-49G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-49G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-49G>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8000
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-67257940-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67257940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67257938
    reference: chr 17
allele count: 113
allele frequency: 6.996037642397227e-3
allele num: 16152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1082-53_*1082-52delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3319-53_3319-52delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3316-53_3316-52delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1066-53_*1066-52delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.214-53_214-52delAT
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3316-53_3316-52delAT
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25695
  bin: 7.5e0
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23053
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.75e1
  variant carriers: 212
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22487
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7925
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8139
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.75e1
  variant carriers: 28
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: CAT
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-67260834-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67260834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67260834
    reference: chr 17
allele count: 64
allele frequency: 6.020243067313843e-4
allele num: 106308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.213+42A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3318+42A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3315+42A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1065+42A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3315+42A>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1081+42A>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17524
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5756
  bin: 9.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-67260840-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67260840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67260840
    reference: chr 17
allele count: 1
allele frequency: 9.390376741914886e-6
allele num: 106492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1065+36G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3318+36G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3315+36G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.213+36G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3315+36G>C
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1081+36G>C
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-67260849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67260849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67260849
    reference: chr 17
allele count: 1
allele frequency: 9.317580410718945e-6
allele num: 107324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3318+27C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3315+27C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3315+27C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1081+27C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1065+27C>T
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.213+27C>T
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-67260850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67260850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 67260850
    reference: chr 17
allele count: 1
allele frequency: 9.305095470279526e-6
allele num: 107468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467882
  ensembl transcript: ENST00000588877
  gene symbol: ABCA5
  hgvsc: ENST00000588877.1:c.3315+26G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465766
  ensembl transcript: ENST00000591234
  gene symbol: ABCA5
  hgvsc: ENST00000591234.1:c.*1065+26G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000465351
  ensembl transcript: ENST00000586811
  gene symbol: ABCA5
  hgvsc: ENST00000586811.1:c.213+26G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000467251
  ensembl transcript: ENST00000586995
  gene symbol: ABCA5
  hgvsc: ENST00000586995.1:c.*1081+26G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376444
  ensembl transcript: ENST00000392677
  gene symbol: ABCA5
  hgvsc: ENST00000392677.2:c.3318+26G>A
  variant of: http://identifiers.org/hgnc/35
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154265
  ensembl protein: ENSP00000376443
  ensembl transcript: ENST00000392676
  gene symbol: ABCA5
  hgvsc: ENST00000392676.3:c.3315+26G>A
  variant of: http://identifiers.org/hgnc/35
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12534
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.177e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

DP
type: SiteQuality
SIO_000300: 1.334236e6

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.055297593921486e-4
allele num: 9476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 1.240008e6

QD
type: SiteQuality
SIO_000300: 6.33e0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52840
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.011639321273313e-5
allele num: 14262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.188884e6

QD
type: SiteQuality
SIO_000300: 4.7e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.752e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.002526366443437e-4
allele num: 49874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

DP
type: SiteQuality
SIO_000300: 1.078537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.4e1

GenotypeQuality
all individuals: 776
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5835
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 1

South Asian
type: Population
allele count: 3
allele frequency: 2.170767004341534e-4
allele num: 13820
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

African
type: Population
allele count: 147
allele frequency: 1.658767772511848e-2
allele num: 8862
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 7.934708682838359e-4
allele num: 8822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.4e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.078537e6

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2419
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3056
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.283321194464675e-5
allele num: 13730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.057874e6

FS
type: SiteQuality
SIO_000300: 3.636e0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
all individuals: 1263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 9.98289e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.578000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

QD
type: SiteQuality
SIO_000300: 8.34e0

GenotypeQuality
all individuals: 1259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4232
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.094091903719912e-3
allele num: 8226
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 5.296100144439095e-3
allele num: 8308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.094044024331539e-4
allele num: 45702
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.411e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.97546e5

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 4.712e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

DP
type: SiteQuality
SIO_000300: 3.74644e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

GenotypeQuality
all individuals: 343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.202501202501203e-4
allele num: 8316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 3.92386e5

VQSLOD
type: SiteQuality
SIO_000300: -1.707e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.676e0

QD
type: SiteQuality
SIO_000300: 1.451e1

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
all individuals: 12161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.51004016064257e-4
allele num: 7968
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 4.61051e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.810975609756098e-4
allele num: 2624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.58e-2

DP
type: SiteQuality
SIO_000300: 5.77057e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 7.44e0

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6131
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10352
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.380706921944035e-4
allele num: 21728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.081980686254366e-4
allele num: 9734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

DP
type: SiteQuality
SIO_000300: 8.24878e5

FS
type: SiteQuality
SIO_000300: 7.75e-1

GenotypeQuality
all individuals: 975
bin: 3.25e1
variant carriers: 65

GenotypeQuality
all individuals: 316
bin: 1.25e1
variant carriers: 28

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 90

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 25

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 68

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 64

GenotypeQuality
all individuals: 6131
bin: 9.75e1
variant carriers: 5295

GenotypeQuality
all individuals: 10352
bin: 6.25e1
variant carriers: 101

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 190

South Asian
type: Population
allele count: 760
allele frequency: 7.807684405177727e-2
allele num: 9734
num of homozygotes: 26

Latino
type: Population
allele count: 432
allele frequency: 1.584739545121056e-1
allele num: 2726
num of homozygotes: 9

East Asian
type: Population
allele count: 9
allele frequency: 4.087193460490463e-3
allele num: 2202
num of homozygotes: 0

African
type: Population
allele count: 102
allele frequency: 2.536051715564396e-2
allele num: 4022
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 282
allele frequency: 1.102423768569195e-1
allele num: 2558
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 3924
allele frequency: 1.805964653902798e-1
allele num: 21728
num of homozygotes: 169

Other
type: Population
allele count: 39
allele frequency: 1.010362694300518e-1
allele num: 386
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

QD
type: SiteQuality
SIO_000300: 1.397e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 8.24878e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

GenotypeQuality
all individuals: 770
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3778
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.917545541706615e-4
allele num: 10430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 1.1869e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 8.19539e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.612330198537095e-4
allele num: 3828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.165e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.001e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

DP
type: SiteQuality
SIO_000300: 8.76242e5

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 24343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11892
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.06782464846981e-4
allele num: 4836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -3.809e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 9.60127e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

GenotypeQuality
all individuals: 2626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39746
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.018215912135012e-4
allele num: 7466
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 4.729148753224419e-3
allele num: 6978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.639344262295082e-3
allele num: 610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.037946e6

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
all individuals: 1295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17409
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.049180327868852e-4
allele num: 4880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.566627089231893e-5
allele num: 43796
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.102936e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.288629737609329e-5
allele num: 13720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.566e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

DP
type: SiteQuality
SIO_000300: 1.165019e6

VQSLOD
type: SiteQuality
SIO_000300: -3.517e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 9.617696561673479e-4
allele num: 8318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.377e1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.0943e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.236011e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 3715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.246956765076256e-5
allele num: 57176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 5.392e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.298196e6

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 963
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.11781801922647e-4
allele num: 8946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.918839153959665e-4
allele num: 8132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

FS
type: SiteQuality
SIO_000300: 5.441e0

DP
type: SiteQuality
SIO_000300: 1.339218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1325
bin: 9.75e1
variant carriers: 262

GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 7
allele frequency: 7.668711656441718e-4
allele num: 9128
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.630630630630631e-4
allele num: 10656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 212
allele frequency: 3.442452585087036e-3
allele num: 61584
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.952380952380952e-3
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

South Asian
type: Population
allele count: 40
allele frequency: 2.553300140431508e-3
allele num: 15666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.63826998689384e-4
allele num: 6104
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 1.370784e6

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.123e1

GenotypeQuality
all individuals: 45575
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614517743550002e-5
allele num: 61938
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

DP
type: SiteQuality
SIO_000300: 1.372259e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.882e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 7.59e0

GenotypeQuality
all individuals: 3809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5939303133667e-5
allele num: 62738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.032e0

QD
type: SiteQuality
SIO_000300: 1.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.384268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
all individuals: 1048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.072731173567904e-4
allele num: 9322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.593e0

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

QD
type: SiteQuality
SIO_000300: 9.16e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.941e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.852e0

DP
type: SiteQuality
SIO_000300: 1.392872e6

GenotypeQuality
all individuals: 3472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.831837332844843e-4
allele num: 10918
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

DP
type: SiteQuality
SIO_000300: 1.393237e6

FS
type: SiteQuality
SIO_000300: 3.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 7.95e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.145783793671118e-5
allele num: 10934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578831033502794e-5
allele num: 63338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1099e1

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.392116e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.383e0

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

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

GenotypeQuality
all individuals: 251
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.170138888888889e-4
allele num: 9216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 1.421e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.389919e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

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

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.878051834230625e-4
allele num: 15974
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

DP
type: SiteQuality
SIO_000300: 1.389919e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

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

GenotypeQuality
all individuals: 318
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.132420091324201e-5
allele num: 10950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582779360557138e-5
allele num: 63180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

DP
type: SiteQuality
SIO_000300: 1.383284e6

QD
type: SiteQuality
SIO_000300: 9.42e0

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.829156758734224e-4
allele num: 10934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.51444610066284e-5
allele num: 63062
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.537688442211055e-4
allele num: 15920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.377675e6

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.206258616820033e-5
allele num: 62378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.328025e6

QD
type: SiteQuality
SIO_000300: 1.804e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 1.2463e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62378
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.923570146191331e-4
allele num: 15596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.281021897810219e-4
allele num: 8768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.804e1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 1.2463e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.328025e6

GenotypeQuality
all individuals: 1550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607923848726524e-5
allele num: 62192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 8.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 1.31536e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.961553550411926e-3
allele num: 15294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.189e1

FS
type: SiteQuality
SIO_000300: 3.305e0

DP
type: SiteQuality
SIO_000300: 1.243113e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.512e0

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 30842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.884720593982025e-5
allele num: 61416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15128
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.229537e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.595435958316844e-5
allele num: 15162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

DP
type: SiteQuality
SIO_000300: 1.203597e6

FS
type: SiteQuality
SIO_000300: 3.358e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 5225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63510906177442e-5
allele num: 61158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.602564102564103e-4
allele num: 6240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.328e1

DP
type: SiteQuality
SIO_000300: 1.189091e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4610
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16921
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.427004797806717e-4
allele num: 2918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.07641e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.61e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

MQ
type: SiteQuality
SIO_000300: 5.475e1

GenotypeQuality
all individuals: 5216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11676
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.024e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

QD
type: SiteQuality
SIO_000300: 1.048e1

DP
type: SiteQuality
SIO_000300: 5.18694e5

GenotypeQuality
all individuals: 16532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.628399283504315e-4
allele num: 12282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

DP
type: SiteQuality
SIO_000300: 5.5198e5

GenotypeQuality
all individuals: 3289
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.65764447695684e-4
allele num: 5468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3052
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.01e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.874e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 5.55374e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
all individuals: 15135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25041
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.811594202898551e-4
allele num: 5520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 5.66858e5

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33941
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.025764895330113e-4
allele num: 4968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 7.69426e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 3.442e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 7.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.04498017959712e-5
allele num: 24722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.271e0

FS
type: SiteQuality
SIO_000300: 1.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 8.1676e5

QD
type: SiteQuality
SIO_000300: 1.104e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1460
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 9.75e1
variant carriers: 502

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 31810
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 15159
bin: 6.25e1
variant carriers: 4

Latino
type: Population
allele count: 33
allele frequency: 6.792918896665294e-3
allele num: 4858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 3.043445179943696e-4
allele num: 26286
num of homozygotes: 0

African
type: Population
allele count: 497
allele frequency: 8.217592592592593e-2
allele num: 6048
num of homozygotes: 14

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.192982456140351e-3
allele num: 456
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.40686550365785e-4
allele num: 7108
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

DP
type: SiteQuality
SIO_000300: 8.45962e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

GenotypeQuality
all individuals: 759
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.725227238861571e-5
allele num: 26844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 8.47298e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.844e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

GenotypeQuality
all individuals: 558
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.061099546957267e-5
allele num: 32668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
SIO_000300: 6.03e0

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 1.202e0

DP
type: SiteQuality
SIO_000300: 9.39153e5

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.280737704918033e-4
allele num: 7808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 7.505e0

DP
type: SiteQuality
SIO_000300: 9.45078e5

VQSLOD
type: SiteQuality
SIO_000300: -4.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1597
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.915708812260536e-3
allele num: 522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.175571621701052e-4
allele num: 34026
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.411764705882353e-4
allele num: 6800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 9.49142e5

VQSLOD
type: SiteQuality
SIO_000300: -7.954e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 1002
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.173158141717503e-4
allele num: 34096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

FS
type: SiteQuality
SIO_000300: 6.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 9.44001e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

QD
type: SiteQuality
SIO_000300: 1.925e1

GenotypeQuality
all individuals: 529
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.943080816999235e-5
allele num: 33978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
SIO_000300: 1.987e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 9.42901e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeQuality
all individuals: 1423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.365184484389782e-4
allele num: 4228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQ
type: SiteQuality
SIO_000300: 5.498e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

QD
type: SiteQuality
SIO_000300: 1.094e1

DP
type: SiteQuality
SIO_000300: 8.4533e5

FS
type: SiteQuality
SIO_000300: 6.397e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 1.239669421487603e-3
allele num: 4840
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.846381093057607e-4
allele num: 5416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.845266476966854e-5
allele num: 26006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.862891207153502e-4
allele num: 5368
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.429e0

DP
type: SiteQuality
SIO_000300: 7.15755e5

QD
type: SiteQuality
SIO_000300: 1.001e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

GenotypeQuality
all individuals: 1470
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5770
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.934984520123839e-4
allele num: 5168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5102
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.658e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.449e0

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 6.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.532e0

DP
type: SiteQuality
SIO_000300: 6.86251e5

GenotypeQuality
all individuals: 1945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.056e1

DP
type: SiteQuality
SIO_000300: 6.08104e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.82783e5

VQSLOD
type: SiteQuality
SIO_000300: -1.549e0

QD
type: SiteQuality
SIO_000300: 6.03e0

GenotypeQuality
all individuals: 1821
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 7.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 5.81413e5

GenotypeQuality
all individuals: 355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2807
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.454944487477407e-5
allele num: 15492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.3646e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 1773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.847380410022779e-4
allele num: 3512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

DP
type: SiteQuality
SIO_000300: 5.19653e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -2.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.181e0

GenotypeQuality
all individuals: 1155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.97e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.659e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 9.82e0

DP
type: SiteQuality
SIO_000300: 5.01202e5

GenotypeQuality
all individuals: 284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15086
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.251e0

QD
type: SiteQuality
SIO_000300: 1.142e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 4.60291e5

GenotypeQuality
all individuals: 111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
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: 2086
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.615328994938539e-4
allele num: 2766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.177e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.599e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.757e1

GenotypeQuality
all individuals: 1098
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 14758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 2.26928895612708e-3
allele num: 2644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.436e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

DP
type: SiteQuality
SIO_000300: 4.54889e5

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

GenotypeQuality
all individuals: 1061
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.153402537485582e-4
allele num: 8670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 7.71e0

VQSLOD
type: SiteQuality
SIO_000300: -1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.01e-2

DP
type: SiteQuality
SIO_000300: 4.41028e5

FS
type: SiteQuality
SIO_000300: 2.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6940
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.171e0

DP
type: SiteQuality
SIO_000300: 4.39621e5

QD
type: SiteQuality
SIO_000300: 1.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.25e1
variant carriers: 23

GenotypeQuality
all individuals: 1223
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 10

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

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 2

African
type: Population
allele count: 33
allele frequency: 1.497277676950998e-2
allele num: 2204
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 1.3215859030837e-2
allele num: 1816
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.952380952380952e-3
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-3
allele num: 1156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 6.590400397910968e-3
allele num: 8042
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.892e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

DP
type: SiteQuality
SIO_000300: 4.38878e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 3266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5585
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
num of homozygotes: 0

African
type: Population
allele count: 51
allele frequency: 5.641592920353982e-3
allele num: 9040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.786331756646551e-5
allele num: 61310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.324539212143115e-4
allele num: 11068
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

FS
type: SiteQuality
SIO_000300: 8.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.45e1

DP
type: SiteQuality
SIO_000300: 1.418437e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

GenotypeQuality
all individuals: 969
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5726
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628346251546929e-5
allele num: 61412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.451191e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.951e0

QD
type: SiteQuality
SIO_000300: 1.743e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5760
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.997660608241857e-5
allele num: 11114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 8.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.631e0

DP
type: SiteQuality
SIO_000300: 1.497765e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.375e0

MQ
type: SiteQuality
SIO_000300: 6.0e1