19-1054311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054311
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054311
    reference: chr 19
allele count: 5
allele frequency: 4.632031423701178e-5
allele num: 107944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3697C>T
  hgvsp: ENSP00000414062.1:p.Arg1233Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.153C>T
  hgvsp: ENSP00000437311.1:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3697C>T
  hgvsp: ENSP00000263094.6:p.Arg1233Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3283C>T
  hgvsp: ENSP00000465322.1:p.Arg1095Cys
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20788
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7433
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1233Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-1054312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054312
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054312
    reference: chr 19
allele count: 1
allele frequency: 9.257373497991149e-6
allele num: 108022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3698G>A
  hgvsp: ENSP00000414062.1:p.Arg1233His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3284G>A
  hgvsp: ENSP00000465322.1:p.Arg1095His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3698G>A
  hgvsp: ENSP00000263094.6:p.Arg1233His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.154G>A
  hgvsp: ENSP00000437311.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1233His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-1054314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054314
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054314
    reference: chr 19
allele count: 1
allele frequency: 9.233610341643583e-6
allele num: 108300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.156C>T
  hgvsp: ENSP00000437311.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3700C>T
  hgvsp: ENSP00000414062.1:p.Arg1234Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3700C>T
  hgvsp: ENSP00000263094.6:p.Arg1234Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3286C>T
  hgvsp: ENSP00000465322.1:p.Arg1096Cys
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1234Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-1054315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054315
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054315
    reference: chr 19
allele count: 18
allele frequency: 1.662264743364793e-4
allele num: 108286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.157G>A
  hgvsp: ENSP00000437311.1:p.Arg53His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3287G>A
  hgvsp: ENSP00000465322.1:p.Arg1096His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3701G>A
  hgvsp: ENSP00000263094.6:p.Arg1234His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3701G>A
  hgvsp: ENSP00000414062.1:p.Arg1234His
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21230
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1234His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-1054320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054320
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054320
    reference: chr 19
allele count: 5
allele frequency: 4.617743216535215e-5
allele num: 108278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3706C>T
  hgvsp: ENSP00000263094.6:p.Arg1236Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.162C>T
  hgvsp: ENSP00000437311.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3706C>T
  hgvsp: ENSP00000414062.1:p.Arg1236Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3292C>T
  hgvsp: ENSP00000465322.1:p.Arg1098Cys
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1236Cys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1054321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054321
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054321
    reference: chr 19
allele count: 5
allele frequency: 4.626031605047926e-5
allele num: 108084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.163G>A
  hgvsp: ENSP00000437311.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3293G>A
  hgvsp: ENSP00000465322.1:p.Arg1098His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3707G>A
  hgvsp: ENSP00000414062.1:p.Arg1236His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3707G>A
  hgvsp: ENSP00000263094.6:p.Arg1236His
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1236His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-1054321-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054321
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054321
    reference: chr 19
allele count: 1
allele frequency: 9.252063210095851e-6
allele num: 108084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3293G>C
  hgvsp: ENSP00000465322.1:p.Arg1098Pro
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.163G>C
  hgvsp: ENSP00000437311.1:p.Arg55Pro
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3707G>C
  hgvsp: ENSP00000263094.6:p.Arg1236Pro
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3707G>C
  hgvsp: ENSP00000414062.1:p.Arg1236Pro
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1236Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1054323-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054323
    reference: chr 19
allele count: 1
allele frequency: 9.245733094177037e-6
allele num: 108158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.165C>G
  hgvsp: ENSP00000437311.1:p.Arg56Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3709C>G
  hgvsp: ENSP00000414062.1:p.Arg1237Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3709C>G
  hgvsp: ENSP00000263094.6:p.Arg1237Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3295C>G
  hgvsp: ENSP00000465322.1:p.Arg1099Gly
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1237Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-1054323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054323
    reference: chr 19
allele count: 3
allele frequency: 2.773719928253111e-5
allele num: 108158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3709C>T
  hgvsp: ENSP00000414062.1:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3295C>T
  hgvsp: ENSP00000465322.1:p.Arg1099Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3709C>T
  hgvsp: ENSP00000263094.6:p.Arg1237Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.165C>T
  hgvsp: ENSP00000437311.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1237Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

19-1054324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054324
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054324
    reference: chr 19
allele count: 236
allele frequency: 2.183971867481029e-3
allele num: 108060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3710G>A
  hgvsp: ENSP00000263094.6:p.Arg1237His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.166G>A
  hgvsp: ENSP00000437311.1:p.Arg56His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3710G>A
  hgvsp: ENSP00000414062.1:p.Arg1237His
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3296G>A
  hgvsp: ENSP00000465322.1:p.Arg1099His
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 20879
  bin: 2.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6249
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30423
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 228
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Arg1237His
num of homozygotes: 3
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-1054325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054325
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054325
    reference: chr 19
allele count: 2
allele frequency: 1.855425263470387e-5
allele num: 107792
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3711C>T
  hgvsp: ENST00000263094.6:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3711C>T
  hgvsp: ENST00000433129.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.167C>T
  hgvsp: ENST00000530092.1:c.167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3297C>T
  hgvsp: ENST00000435683.2:c.3297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29788
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg1237Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-1054326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054326
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054326
    reference: chr 19
allele count: 6
allele frequency: 5.562044607597753e-5
allele num: 107874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3712G>A
  hgvsp: ENSP00000414062.1:p.Gly1238Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.168G>A
  hgvsp: ENSP00000437311.1:p.Gly57Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3298G>A
  hgvsp: ENSP00000465322.1:p.Gly1100Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3712G>A
  hgvsp: ENSP00000263094.6:p.Gly1238Ser
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1238Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-1054330-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054330
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054330
    reference: chr 19
allele count: 1
allele frequency: 9.289191097239253e-6
allele num: 107652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3302T>A
  hgvsp: ENSP00000465322.1:p.Leu1101Gln
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3716T>A
  hgvsp: ENSP00000263094.6:p.Leu1239Gln
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3716T>A
  hgvsp: ENSP00000414062.1:p.Leu1239Gln
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.172T>A
  hgvsp: ENSP00000437311.1:p.Leu58Gln
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1239Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-1054334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054334
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054334
    reference: chr 19
allele count: 16
allele frequency: 1.492398097192426e-4
allele num: 107210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3306C>T
  hgvsp: ENST00000435683.2:c.3306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3720C>T
  hgvsp: ENST00000263094.6:c.3720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.176C>T
  hgvsp: ENST00000530092.1:c.176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3720C>T
  hgvsp: ENST00000433129.1:c.3720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20129
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14039
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7460
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe1240Phe
num of homozygotes: 2
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-1054335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054335
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054335
    reference: chr 19
allele count: 3
allele frequency: 2.803319129849742e-5
allele num: 107016
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3721G>A
  hgvsp: ENSP00000263094.6:p.Ala1241Thr
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.177G>A
  hgvsp: ENSP00000437311.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3721G>A
  hgvsp: ENSP00000414062.1:p.Ala1241Thr
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3307G>A
  hgvsp: ENSP00000465322.1:p.Ala1103Thr
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1241Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-1054340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054340
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054340
    reference: chr 19
allele count: 1
allele frequency: 9.366453111535724e-6
allele num: 106764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182G>A
  hgvsp: ENST00000530092.1:c.182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726G>A
  hgvsp: ENST00000263094.6:c.3726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312G>A
  hgvsp: ENST00000435683.2:c.3312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726G>A
  hgvsp: ENST00000433129.1:c.3726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
hgvs: c.3726G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

19-1054341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054341
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054341
    reference: chr 19
allele count: 4
allele frequency: 3.745318352059925e-5
allele num: 106800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+1G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+1G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+1G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+1G>A
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13737
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19752
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.25e1
  variant carriers: 0
hgvs: c.3726+1G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-1054349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054349
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054349
    reference: chr 19
allele count: 2
allele frequency: 1.879734581477095e-5
allele num: 106398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+9G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+9G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+9G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+9G>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-1054350-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054350
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054350
    reference: chr 19
allele count: 3
allele frequency: 2.823157419257698e-5
allele num: 106264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+10G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+10G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+10G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+10G>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1054355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054355
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054355
    reference: chr 19
allele count: 3
allele frequency: 2.831524303916942e-5
allele num: 105950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+15C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+15C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+15C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+15C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-1054367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054367
    reference: chr 19
allele count: 4
allele frequency: 3.813809805305009e-5
allele num: 104882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+27G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+27G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+27G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+27G>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

19-1054367-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054367
    reference: chr 19
allele count: 1
allele frequency: 9.534524513262524e-6
allele num: 104882
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+27G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+27G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+27G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+27G>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

19-1054373-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054373
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054373
    reference: chr 19
allele count: 2
allele frequency: 1.912301837722066e-5
allele num: 104586
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3726+33G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+33G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3312+33G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3726+33G>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-1054521-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054521
    reference: chr 19
allele count: 1
allele frequency: 8.365540664893172e-6
allele num: 119538
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-48A>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+181A>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-48A>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-48A>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-1054523-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054523
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054523
    reference: chr 19
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-46G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-46G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+183G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-46G>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9036
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-1054527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054527
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054527
    reference: chr 19
allele count: 2
allele frequency: 1.672856234735187e-5
allele num: 119556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-42G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-42G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-42G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+187G>A
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

19-1054527-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054527
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054527
    reference: chr 19
allele count: 2
allele frequency: 1.672856234735187e-5
allele num: 119556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-42G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-42G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+187G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-42G>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-1054550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054550
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054550
    reference: chr 19
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-19T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-19T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-19T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+210T>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-1054558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054558
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054558
    reference: chr 19
allele count: 1
allele frequency: 8.345155637152633e-6
allele num: 119830
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-11T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-11T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.182+218T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-11T>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-1054560-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054560
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054560
    reference: chr 19
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-219G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-9G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-9G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-9G>C
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-1054563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054563
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054563
    reference: chr 19
allele count: 111
allele frequency: 9.259104786373267e-4
allele num: 119882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3727-6C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3313-6C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-216C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3727-6C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31308
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42860
  bin: 6.25e1
  variant carriers: 0
hgvs: c.3727-6C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-1054571-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054571
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054571
    reference: chr 19
allele count: 3
allele frequency: 2.499916669444352e-5
allele num: 120004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3729C>A
  hgvsp: ENST00000263094.6:c.3729C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3729C>A
  hgvsp: ENST00000433129.1:c.3729C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-208C>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3315C>A
  hgvsp: ENST00000435683.2:c.3315C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 9.75e1
  variant carriers: 3
hgvs: c.3729C>A
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-1054571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054571
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054571
    reference: chr 19
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3729C>T
  hgvsp: ENST00000263094.6:c.3729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-208C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3729C>T
  hgvsp: ENST00000433129.1:c.3729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3315C>T
  hgvsp: ENST00000435683.2:c.3315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31452
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9152
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3729C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1054572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054572
    reference: chr 19
allele count: 26
allele frequency: 2.166125135382821e-4
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3730G>A
  hgvsp: ENSP00000263094.6:p.Val1244Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3316G>A
  hgvsp: ENSP00000465322.1:p.Val1106Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3730G>A
  hgvsp: ENSP00000414062.1:p.Val1244Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-207G>A
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10547
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1244Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

19-1054577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054577
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054577
    reference: chr 19
allele count: 1
allele frequency: 8.329168748958854e-6
allele num: 120060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3735G>A
  hgvsp: ENST00000433129.1:c.3735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-202G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3321G>A
  hgvsp: ENST00000435683.2:c.3321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3735G>A
  hgvsp: ENST00000263094.6:c.3735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1245Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

19-1054591-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054590
    reference: chr 19
allele count: 4
allele frequency: 3.330890680167877e-5
allele num: 120088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3752delG
  hgvsp: ENSP00000414062.1:p.Gly1251AlafsTer122
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3752delG
  hgvsp: ENSP00000263094.6:p.Gly1251AlafsTer122
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-185delG
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3338delG
  hgvsp: ENSP00000465322.1:p.Gly1113AlafsTer122
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1251AlafsTer122
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: TG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-1054595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054595
    reference: chr 19
allele count: 3
allele frequency: 2.498168010125908e-5
allele num: 120088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3753C>T
  hgvsp: ENST00000263094.6:c.3753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3753C>T
  hgvsp: ENST00000433129.1:c.3753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-184C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3339C>T
  hgvsp: ENST00000435683.2:c.3339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1251Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-1054597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054597
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054597
    reference: chr 19
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-182T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3755T>C
  hgvsp: ENSP00000263094.6:p.Leu1252Pro
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3755T>C
  hgvsp: ENSP00000414062.1:p.Leu1252Pro
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3341T>C
  hgvsp: ENSP00000465322.1:p.Leu1114Pro
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1252Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1054600-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054600
    reference: chr 19
allele count: 3
allele frequency: 2.49820961644155e-5
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3758C>A
  hgvsp: ENSP00000263094.6:p.Ala1253Asp
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-179C>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3344C>A
  hgvsp: ENSP00000465322.1:p.Ala1115Asp
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3758C>A
  hgvsp: ENSP00000414062.1:p.Ala1253Asp
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1253Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

19-1054604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054604
    reference: chr 19
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-175C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3762C>T
  hgvsp: ENST00000433129.1:c.3762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3762C>T
  hgvsp: ENST00000263094.6:c.3762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3348C>T
  hgvsp: ENST00000435683.2:c.3348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1254Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1054605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054605
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054605
    reference: chr 19
allele count: 5
allele frequency: 4.164029448016257e-5
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3763G>A
  hgvsp: ENSP00000263094.6:p.Val1255Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-174G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3763G>A
  hgvsp: ENSP00000414062.1:p.Val1255Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3349G>A
  hgvsp: ENSP00000465322.1:p.Val1117Met
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31569
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1255Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1054613-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054613
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054613
    reference: chr 19
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3771C>A
  hgvsp: ENSP00000263094.6:p.Ser1257Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-166C>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3357C>A
  hgvsp: ENSP00000465322.1:p.Ser1119Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3771C>A
  hgvsp: ENSP00000414062.1:p.Ser1257Arg
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1257Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-1054619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054619
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054619
    reference: chr 19
allele count: 8
allele frequency: 6.671336602288268e-5
allele num: 119916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-160C>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3777C>A
  hgvsp: ENST00000433129.1:c.3777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3777C>A
  hgvsp: ENST00000263094.6:c.3777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3363C>A
  hgvsp: ENST00000435683.2:c.3363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31537
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 9001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile1259Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-1054619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054619
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054619
    reference: chr 19
allele count: 3
allele frequency: 2.501751225858101e-5
allele num: 119916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3777C>T
  hgvsp: ENST00000433129.1:c.3777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3777C>T
  hgvsp: ENST00000263094.6:c.3777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3363C>T
  hgvsp: ENST00000435683.2:c.3363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-160C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9001
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1259Ile
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-1054620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054620
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054620
    reference: chr 19
allele count: 7
allele frequency: 5.838782864006406e-5
allele num: 119888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3778G>A
  hgvsp: ENSP00000414062.1:p.Val1260Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3778G>A
  hgvsp: ENSP00000263094.6:p.Val1260Met
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-159G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3364G>A
  hgvsp: ENSP00000465322.1:p.Val1122Met
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1260Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-1054620-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054620
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054620
    reference: chr 19
allele count: 1
allele frequency: 8.341118377152009e-6
allele num: 119888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3778G>T
  hgvsp: ENSP00000263094.6:p.Val1260Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3364G>T
  hgvsp: ENSP00000465322.1:p.Val1122Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-159G>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3778G>T
  hgvsp: ENSP00000414062.1:p.Val1260Leu
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1260Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-1054622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054622
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054622
    reference: chr 19
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-157G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3366G>A
  hgvsp: ENST00000435683.2:c.3366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3780G>A
  hgvsp: ENST00000263094.6:c.3780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3780G>A
  hgvsp: ENST00000433129.1:c.3780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1260Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-1054624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054624
    reference: chr 19
allele count: 2
allele frequency: 1.669421211665915e-5
allele num: 119802
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3782C>T
  hgvsp: ENSP00000263094.6:p.Pro1261Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3782C>T
  hgvsp: ENSP00000414062.1:p.Pro1261Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3368C>T
  hgvsp: ENSP00000465322.1:p.Pro1123Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-155C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1261Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-1054627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054627
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054627
    reference: chr 19
allele count: 1
allele frequency: 8.355614973262032e-6
allele num: 119680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3785C>T
  hgvsp: ENSP00000414062.1:p.Pro1262Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3785C>T
  hgvsp: ENSP00000263094.6:p.Pro1262Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3371C>T
  hgvsp: ENSP00000465322.1:p.Pro1124Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-152C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1262Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-1054631-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054631
    reference: chr 19
allele count: 6
allele frequency: 5.017393631255017e-5
allele num: 119584
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3789C>A
  hgvsp: ENSP00000263094.6:p.Phe1263Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3789C>A
  hgvsp: ENSP00000414062.1:p.Phe1263Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-148C>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3375C>A
  hgvsp: ENSP00000465322.1:p.Phe1125Leu
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe1263Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

19-1054631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054631
    reference: chr 19
allele count: 10
allele frequency: 8.362322718758363e-5
allele num: 119584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3789C>T
  hgvsp: ENST00000433129.1:c.3789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3789C>T
  hgvsp: ENST00000263094.6:c.3789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3375C>T
  hgvsp: ENST00000435683.2:c.3375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-148C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1263Phe
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-1054632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054632
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054632
    reference: chr 19
allele count: 1
allele frequency: 8.36344172353807e-6
allele num: 119568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3790G>A
  hgvsp: ENSP00000263094.6:p.Gly1264Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3790G>A
  hgvsp: ENSP00000414062.1:p.Gly1264Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3376G>A
  hgvsp: ENSP00000465322.1:p.Gly1126Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-147G>A
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1264Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-1054637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054637
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054637
    reference: chr 19
allele count: 1
allele frequency: 8.37436773523599e-6
allele num: 119412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-142C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3795C>T
  hgvsp: ENST00000433129.1:c.3795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3381C>T
  hgvsp: ENST00000435683.2:c.3381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3795C>T
  hgvsp: ENST00000263094.6:c.3795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His1265His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-1054642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054642
    reference: chr 19
allele count: 9
allele frequency: 7.548942309305329e-5
allele num: 119222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3800C>T
  hgvsp: ENSP00000263094.6:p.Pro1267Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3800C>T
  hgvsp: ENSP00000414062.1:p.Pro1267Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3386C>T
  hgvsp: ENSP00000465322.1:p.Pro1129Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-137C>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1267Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-1054643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054643
    reference: chr 19
allele count: 4
allele frequency: 3.354522735277839e-5
allele num: 119242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3387G>A
  hgvsp: ENST00000435683.2:c.3387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3801G>A
  hgvsp: ENST00000263094.6:c.3801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3801G>A
  hgvsp: ENST00000433129.1:c.3801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-136G>A
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8183
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1267Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-1054643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054643
    reference: chr 19
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3801G>C
  hgvsp: ENST00000263094.6:c.3801G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3801G>C
  hgvsp: ENST00000433129.1:c.3801G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-136G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3387G>C
  hgvsp: ENST00000435683.2:c.3387G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1267Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

19-1054650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054650
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054650
    reference: chr 19
allele count: 4
allele frequency: 3.358409457281032e-5
allele num: 119104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3394C>T
  hgvsp: ENSP00000465322.1:p.Arg1132Trp
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-129C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3808C>T
  hgvsp: ENSP00000414062.1:p.Arg1270Trp
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3808C>T
  hgvsp: ENSP00000263094.6:p.Arg1270Trp
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30562
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1270Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-1054651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054651
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054651
    reference: chr 19
allele count: 5
allele frequency: 4.197659385126853e-5
allele num: 119114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-128G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3395G>A
  hgvsp: ENSP00000465322.1:p.Arg1132Gln
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3809G>A
  hgvsp: ENSP00000263094.6:p.Arg1270Gln
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3809G>A
  hgvsp: ENSP00000414062.1:p.Arg1270Gln
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30582
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1270Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

19-1054652-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054652
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054652
    reference: chr 19
allele count: 23
allele frequency: 1.930923317158353e-4
allele num: 119114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3396G>T
  hgvsp: ENST00000435683.2:c.3396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3810G>T
  hgvsp: ENST00000263094.6:c.3810G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3810G>T
  hgvsp: ENST00000433129.1:c.3810G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-127G>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.75e1
  variant carriers: 21
hgvs: p.Arg1270Arg
num of homozygotes: 1
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

19-1054659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054659
    reference: chr 19
allele count: 4
allele frequency: 3.361683531112381e-5
allele num: 118988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3403C>G
  hgvsp: ENSP00000465322.1:p.Pro1135Ala
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3817C>G
  hgvsp: ENSP00000414062.1:p.Pro1273Ala
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3817C>G
  hgvsp: ENSP00000263094.6:p.Pro1273Ala
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-120C>G
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1273Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1054660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054660
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054660
    reference: chr 19
allele count: 2
allele frequency: 1.681633202165944e-5
allele num: 118932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3818C>T
  hgvsp: ENSP00000414062.1:p.Pro1273Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3818C>T
  hgvsp: ENSP00000263094.6:p.Pro1273Leu
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-119C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3404C>T
  hgvsp: ENSP00000465322.1:p.Pro1135Leu
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1273Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-1054667-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054667
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054667
    reference: chr 19
allele count: 1
allele frequency: 8.414958430105355e-6
allele num: 118836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3825G>C
  hgvsp: ENSP00000414062.1:p.Met1275Ile
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3825G>C
  hgvsp: ENSP00000263094.6:p.Met1275Ile
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-112G>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3411G>C
  hgvsp: ENSP00000465322.1:p.Met1137Ile
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1275Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1054670-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054670
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054670
    reference: chr 19
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3828C>G
  hgvsp: ENSP00000414062.1:p.Tyr1276Ter
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3414C>G
  hgvsp: ENSP00000465322.1:p.Tyr1138Ter
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3828C>G
  hgvsp: ENSP00000263094.6:p.Tyr1276Ter
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-109C>G
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr1276Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-1054670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054670
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054670
    reference: chr 19
allele count: 2
allele frequency: 1.684976747320887e-5
allele num: 118696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3414C>T
  hgvsp: ENST00000435683.2:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-109C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3828C>T
  hgvsp: ENST00000263094.6:c.3828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3828C>T
  hgvsp: ENST00000433129.1:c.3828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30303
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7804
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1276Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-1054671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054671
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054671
    reference: chr 19
allele count: 2
allele frequency: 1.686170033386167e-5
allele num: 118612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-108G>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3415G>A
  hgvsp: ENSP00000465322.1:p.Gly1139Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3829G>A
  hgvsp: ENSP00000414062.1:p.Gly1277Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3829G>A
  hgvsp: ENSP00000263094.6:p.Gly1277Ser
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1277Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-1054673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054673
    reference: chr 19
allele count: 1
allele frequency: 8.42971305256769e-6
allele num: 118628
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3831T>C
  hgvsp: ENST00000263094.6:c.3831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3417T>C
  hgvsp: ENST00000435683.2:c.3417T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-106T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3831T>C
  hgvsp: ENST00000433129.1:c.3831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1277Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

19-1054674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054674
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054674
    reference: chr 19
allele count: 1
allele frequency: 8.430565859580495e-6
allele num: 118616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3832G>T
  hgvsp: ENSP00000414062.1:p.Ala1278Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3418G>T
  hgvsp: ENSP00000465322.1:p.Ala1140Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3832G>T
  hgvsp: ENSP00000263094.6:p.Ala1278Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-105G>T
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30251
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1278Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-1054676-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054676
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054675
    reference: chr 19
allele count: 1
allele frequency: 8.43469019382918e-6
allele num: 118558
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3835delC
  hgvsp: ENSP00000263094.6:p.Gln1279ArgfsTer94
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3421delC
  hgvsp: ENSP00000465322.1:p.Gln1141ArgfsTer94
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-102delC
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3835delC
  hgvsp: ENSP00000414062.1:p.Gln1279ArgfsTer94
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1279ArgfsTer94
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: TC
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-1054678-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054678
    reference: chr 19
allele count: 2
allele frequency: 1.68784917379783e-5
allele num: 118494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3422A>G
  hgvsp: ENSP00000465322.1:p.Gln1141Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3836A>G
  hgvsp: ENSP00000263094.6:p.Gln1279Arg
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-101A>G
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3836A>G
  hgvsp: ENSP00000414062.1:p.Gln1279Arg
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln1279Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-1054681-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054681
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054681
    reference: chr 19
allele count: 1
allele frequency: 8.451370812345762e-6
allele num: 118324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-98T>G
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3839T>G
  hgvsp: ENSP00000414062.1:p.Val1280Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3839T>G
  hgvsp: ENSP00000263094.6:p.Val1280Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3425T>G
  hgvsp: ENSP00000465322.1:p.Val1142Gly
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1280Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-1054687-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054687
    reference: chr 19
allele count: 2
allele frequency: 1.695030171537053e-5
allele num: 117992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3845T>A
  hgvsp: ENSP00000263094.6:p.Phe1282Tyr
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3431T>A
  hgvsp: ENSP00000465322.1:p.Phe1144Tyr
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-92T>A
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3845T>A
  hgvsp: ENSP00000414062.1:p.Phe1282Tyr
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe1282Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

19-1054687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054687
    reference: chr 19
allele count: 1
allele frequency: 8.475150857685267e-6
allele num: 117992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3431T>C
  hgvsp: ENSP00000465322.1:p.Phe1144Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-92T>C
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3845T>C
  hgvsp: ENSP00000414062.1:p.Phe1282Ser
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3845T>C
  hgvsp: ENSP00000263094.6:p.Phe1282Ser
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1282Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1054687-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054687
    reference: chr 19
allele count: 1
allele frequency: 8.475150857685267e-6
allele num: 117992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3845T>G
  hgvsp: ENSP00000414062.1:p.Phe1282Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-92T>G
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3845T>G
  hgvsp: ENSP00000263094.6:p.Phe1282Cys
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3431T>G
  hgvsp: ENSP00000465322.1:p.Phe1144Cys
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe1282Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1054691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054691
    reference: chr 19
allele count: 1
allele frequency: 8.512666848270226e-6
allele num: 117472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3435C>T
  hgvsp: ENST00000435683.2:c.3435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-88C>T
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3849C>T
  hgvsp: ENST00000433129.1:c.3849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3849C>T
  hgvsp: ENST00000263094.6:c.3849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
hgvs: c.3849C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-1054692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1054692
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1054692
    reference: chr 19
allele count: 3
allele frequency: 2.553278409477769e-5
allele num: 117496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000465322
  ensembl transcript: ENST00000435683
  gene symbol: ABCA7
  hgvsc: ENST00000435683.2:c.3436A>G
  hgvsp: ENSP00000465322.1:p.Ser1146Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000414062
  ensembl transcript: ENST00000433129
  gene symbol: ABCA7
  hgvsc: ENST00000433129.1:c.3850A>G
  hgvsp: ENSP00000414062.1:p.Ser1284Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000263094
  ensembl transcript: ENST00000263094
  gene symbol: ABCA7
  hgvsc: ENST00000263094.6:c.3850A>G
  hgvsp: ENSP00000263094.6:p.Ser1284Gly
  variant of: http://identifiers.org/hgnc/37
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064687
  ensembl protein: ENSP00000437311
  ensembl transcript: ENST00000530092
  gene symbol: ABCA7
  hgvsc: ENST00000530092.1:c.183-87A>G
  variant of: http://identifiers.org/hgnc/37
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1284Gly
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1524
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25899
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.972386587771203e-4
allele num: 15210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.388222538456326e-5
allele num: 59028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 3.54e0

DP
type: SiteQuality
SIO_000300: 1.441225e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeQuality
all individuals: 2302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26967
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59086
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.442864e6

QD
type: SiteQuality
SIO_000300: 2.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

FS
type: SiteQuality
SIO_000300: 1.906e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.217433649866082e-4
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
SIO_000300: 1.375e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.425e0

VQSLOD
type: SiteQuality
SIO_000300: -2.966e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 1.674e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.446608e6

GenotypeQuality
all individuals: 7484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 490
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29328
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.518269847160835e-4
allele num: 59278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.519887363604365e-4
allele num: 5682
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.085686465433301e-4
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.575486586007364e-5
allele num: 15208
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.25093820365274e-4
allele num: 7994
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

DP
type: SiteQuality
SIO_000300: 1.450145e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

GenotypeQuality
all individuals: 778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.240079365079365e-4
allele num: 8064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.369499292405148e-5
allele num: 59356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.50754121360926e-4
allele num: 5702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.655e0

QD
type: SiteQuality
SIO_000300: 2.536e1

DP
type: SiteQuality
SIO_000300: 1.451443e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 3.707e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
all individuals: 1300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.4906600249066e-4
allele num: 8030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686397517622854e-5
allele num: 59298
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.339764201500536e-4
allele num: 14928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.449357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 1349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29698
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.698821007502679e-5
allele num: 14928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59298
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 1.449357e6

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

GenotypeQuality
all individuals: 1288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30630
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.684182161142549e-5
allele num: 59376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.44971e6

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

GenotypeQuality
all individuals: 2511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7567
bin: 6.75e1
variant carriers: 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: 5690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.368364322285098e-5
allele num: 59376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.213592233009709e-4
allele num: 8240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

DP
type: SiteQuality
SIO_000300: 1.44971e6

FS
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
all individuals: 7530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 640
bin: 9.25e1
variant carriers: 1

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

African
type: Population
allele count: 219
allele frequency: 2.721849366144668e-2
allele num: 8046
num of homozygotes: 3

Latino
type: Population
allele count: 12
allele frequency: 1.077586206896552e-3
allele num: 11136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59348
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.023472278429786e-4
allele num: 14826
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.597402597402597e-3
allele num: 770
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.134e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.449348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 1317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7568
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686966496845373e-5
allele num: 59278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14676
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 1.442384e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

FS
type: SiteQuality
SIO_000300: 1.364e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

GenotypeQuality
all individuals: 1390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 441
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.979885057471264e-5
allele num: 11136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.056804773623706e-5
allele num: 59326
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.245640259093174e-4
allele num: 8028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

DP
type: SiteQuality
SIO_000300: 1.443317e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeQuality
all individuals: 649
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.687023415885013e-5
allele num: 59276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.092e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.34e0

FS
type: SiteQuality
SIO_000300: 9.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 1.437865e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
all individuals: 577
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 759
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.80666853460353e-4
allele num: 14276
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.382263410674423e-5
allele num: 59132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.875e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 1.5033e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 1.431451e6

QD
type: SiteQuality
SIO_000300: 1.593e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.692734782314307e-5
allele num: 59076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.492522432701894e-4
allele num: 8024
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 8.52e0

VQSLOD
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.42834e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 376
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59018
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: 5658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.162297665090961e-5
allele num: 13962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.41927e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 1.124e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.1468441391155e-4
allele num: 13974
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.305483028720627e-3
allele num: 766
num of homozygotes: 0

European (Finnish)
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: 59036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 2.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
type: SiteQuality
SIO_000300: 1.419198e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.39e-1

GenotypeQuality
all individuals: 1291
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1034
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58934
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.455180442374854e-4
allele num: 13744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

FS
type: SiteQuality
SIO_000300: 4.499e0

DP
type: SiteQuality
SIO_000300: 1.404765e6

GenotypeQuality
all individuals: 541
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.704164413196323e-4
allele num: 11094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5896e1

VQSLOD
type: SiteQuality
SIO_000300: -2.217e0

DP
type: SiteQuality
SIO_000300: 1.400751e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
all individuals: 431
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.101346755543464e-5
allele num: 58808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 8.26e0

DP
type: SiteQuality
SIO_000300: 1.390803e6

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

GenotypeQuality
all individuals: 2119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.840647125218046e-5
allele num: 58474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.360686e6

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710161781304512e-5
allele num: 58474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.360686e6

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 1289
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 963
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.427004797806717e-5
allele num: 58360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.337352e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65562
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.103e0

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

DP
type: SiteQuality
SIO_000300: 1.615442e6

GenotypeQuality
all individuals: 884
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.615862e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.536e-1

FS
type: SiteQuality
SIO_000300: 4.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.054e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.940993788819876e-4
allele num: 10304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65562
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.617939e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.535e0

VQSLOD
type: SiteQuality
SIO_000300: -2.052e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

FS
type: SiteQuality
SIO_000300: 1.548e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.243935812912054e-4
allele num: 16078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

DP
type: SiteQuality
SIO_000300: 1.617939e6

VQSLOD
type: SiteQuality
SIO_000300: -2.052e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.535e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 1.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.177415369409439e-5
allele num: 16188
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.630492e6

FS
type: SiteQuality
SIO_000300: 1.129e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.143260842855388e-5
allele num: 16278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.63564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.636646e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.198e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

GenotypeQuality
all individuals: 2324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 104
allele frequency: 1.584061900265026e-3
allele num: 65654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.065857885615251e-4
allele num: 11540
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

DP
type: SiteQuality
SIO_000300: 1.638533e6

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

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43151
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.635312e6

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.171e1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-5
allele num: 65700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.635312e6

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 753
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 43198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521931026085898e-5
allele num: 65706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.330097087378641e-3
allele num: 10300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 1.635546e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43330
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65720
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 1.634269e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.215e0

FS
type: SiteQuality
SIO_000300: 5.561e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.428658166363084e-4
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

FS
type: SiteQuality
SIO_000300: 2.9076e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.633518e6

GenotypeQuality
all individuals: 2134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.564542632828191e-5
allele num: 65724
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.873e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 1.632116e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2134
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65718
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

QD
type: SiteQuality
SIO_000300: 1.103e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.697e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.631818e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.88e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 43447
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.910925674364448e-4
allele num: 10306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 1.966e0

DP
type: SiteQuality
SIO_000300: 1.631417e6

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521282745611099e-5
allele num: 65734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.631024e6

VQSLOD
type: SiteQuality
SIO_000300: -6.315e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 7.714e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 7.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
all individuals: 678
bin: 9.75e1
variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.085501293169025e-5
allele num: 65730
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.321e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.1e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 1.059e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.630952e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 669
bin: 9.75e1
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65694
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.627957e6

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 1.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.263e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

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

GenotypeQuality
all individuals: 43550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.272137227630969e-4
allele num: 8628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.626909e6

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522255373561469e-5
allele num: 65692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

DP
type: SiteQuality
SIO_000300: 1.626909e6

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 4.963e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 8989
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variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.090133982947625e-5
allele num: 65680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.452e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

DP
type: SiteQuality
SIO_000300: 1.625756e6

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43536
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 5.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

DP
type: SiteQuality
SIO_000300: 1.625756e6

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8941
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523275651961979e-5
allele num: 65648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.622286e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 2.442e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

GenotypeQuality
all individuals: 640
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2054
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523275651961979e-5
allele num: 65648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

FS
type: SiteQuality
SIO_000300: 2.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.175e0

DP
type: SiteQuality
SIO_000300: 1.62127e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 1.617213e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
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GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.644314868804665e-4
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.437e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.613662e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42783
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.220070154033857e-4
allele num: 65570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.613662e6

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525506468147425e-5
allele num: 65552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 6.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.401e0

VQSLOD
type: SiteQuality
SIO_000300: -2.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 1.612427e6

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.995e1

DP
type: SiteQuality
SIO_000300: 1.601768e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.817e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.835e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

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

GenotypeQuality
all individuals: 598
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 656
bin: 5.75e1
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GenotypeQuality
all individuals: 41613
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.070270931441502e-4
allele num: 65404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.405e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.593985e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824595547986863e-4
allele num: 16442
num of homozygotes: 0

Other
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: 65420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.299e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.591996e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42059
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.49e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 5.299e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.591996e6

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059601028025946e-5
allele num: 65368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.041e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

DP
type: SiteQuality
SIO_000300: 1.585065e6

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059507419305492e-5
allele num: 65370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.583414e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.47e0

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

GenotypeQuality
all individuals: 2019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43135
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.518110621634851e-4
allele num: 65376
num of homozygotes: 1

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e0

FS
type: SiteQuality
SIO_000300: 3.225e0

DP
type: SiteQuality
SIO_000300: 1.582956e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.353e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.644681839294008e-4
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.551e1

FS
type: SiteQuality
SIO_000300: 2.6153e1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.118e0

DP
type: SiteQuality
SIO_000300: 1.577564e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43298
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.063350079647102e-5
allele num: 65288
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.374e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.576164e6

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65252
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.546e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.572756e6

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

GenotypeQuality
all individuals: 314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533883486210388e-5
allele num: 65194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

FS
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.571116e6

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1597
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65194
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.571116e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.069556142181841e-5
allele num: 65156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.568927e6

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65170
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -1.486e0

DP
type: SiteQuality
SIO_000300: 1.567376e6

QD
type: SiteQuality
SIO_000300: 1.081e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 1572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65160
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.567525e6

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.372e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.56552e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.347e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.24e-1

MQ
type: SiteQuality
SIO_000300: 6.008e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.012e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1840
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variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.072102239562532e-5
allele num: 65102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

FS
type: SiteQuality
SIO_000300: 5.291e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

DP
type: SiteQuality
SIO_000300: 1.564568e6

GenotypeQuality
all individuals: 1811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
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: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538082933431771e-5
allele num: 65016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

FS
type: SiteQuality
SIO_000300: 2.297e0

DP
type: SiteQuality
SIO_000300: 1.56142e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.813678829543451e-5
allele num: 11346
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.297e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 1.553612e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 5.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5416872224963e-5
allele num: 64864
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.29e0

DP
type: SiteQuality
SIO_000300: 1.553612e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.26e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5416872224963e-5
allele num: 64864
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 1.553612e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 5.29e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.837044892188053e-5
allele num: 11316
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16256
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5826
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
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FS
type: SiteQuality
SIO_000300: 6.895e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.544206e6

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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