13-36046554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046554
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046554
    reference: chr 13
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6466A>G
  hgvsp: ENSP00000440951.1:p.Thr2156Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6457A>G
  hgvsp: ENSP00000369271.1:p.Thr2153Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6466A>G
  hgvsp: ENSP00000308534.4:p.Thr2156Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6466A>G
  hgvsp: ENSP00000383295.3:p.Thr2156Ala
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr2156Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

13-36046555-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046555
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046555
    reference: chr 13
allele count: 2
allele frequency: 1.663284654535777e-5
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6458C>G
  hgvsp: ENSP00000369271.1:p.Thr2153Ser
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6467C>G
  hgvsp: ENSP00000383295.3:p.Thr2156Ser
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6467C>G
  hgvsp: ENSP00000440951.1:p.Thr2156Ser
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6467C>G
  hgvsp: ENSP00000308534.4:p.Thr2156Ser
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7219
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr2156Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

13-36046557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046557
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046557
    reference: chr 13
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6460C>T
  hgvsp: ENSP00000369271.1:p.Pro2154Ser
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6469C>T
  hgvsp: ENSP00000308534.4:p.Pro2157Ser
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6469C>T
  hgvsp: ENSP00000383295.3:p.Pro2157Ser
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6469C>T
  hgvsp: ENSP00000440951.1:p.Pro2157Ser
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro2157Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

13-36046579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046579
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046579
    reference: chr 13
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6482T>C
  hgvsp: ENSP00000369271.1:p.Val2161Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6491T>C
  hgvsp: ENSP00000383295.3:p.Val2164Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6491T>C
  hgvsp: ENSP00000440951.1:p.Val2164Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6491T>C
  hgvsp: ENSP00000308534.4:p.Val2164Ala
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val2164Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

13-36046586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046586
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046586
    reference: chr 13
allele count: 3
allele frequency: 2.488924286923192e-5
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6498G>A
  hgvsp: ENST00000540320.1:c.6498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6489G>A
  hgvsp: ENST00000379939.2:c.6489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6498G>A
  hgvsp: ENST00000400445.3:c.6498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6498G>A
  hgvsp: ENST00000310336.4:c.6498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val2166Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

13-36046595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046595
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046595
    reference: chr 13
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6507G>A
  hgvsp: ENST00000310336.4:c.6507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6507G>A
  hgvsp: ENST00000400445.3:c.6507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6507G>A
  hgvsp: ENST00000540320.1:c.6507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6498G>A
  hgvsp: ENST00000379939.2:c.6498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly2169Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

13-36046601-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046601
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046601
    reference: chr 13
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6504C>G
  hgvsp: ENST00000379939.2:c.6504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6513C>G
  hgvsp: ENST00000310336.4:c.6513C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6513C>G
  hgvsp: ENST00000400445.3:c.6513C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6513C>G
  hgvsp: ENST00000540320.1:c.6513C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2171Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

13-36046605-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046605
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046605
    reference: chr 13
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6517A>G
  hgvsp: ENSP00000308534.4:p.Ile2173Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6517A>G
  hgvsp: ENSP00000383295.3:p.Ile2173Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6517A>G
  hgvsp: ENSP00000440951.1:p.Ile2173Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6508A>G
  hgvsp: ENSP00000369271.1:p.Ile2170Val
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile2173Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

13-36046607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046607
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046607
    reference: chr 13
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6519C>T
  hgvsp: ENST00000540320.1:c.6519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6519C>T
  hgvsp: ENST00000310336.4:c.6519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6519C>T
  hgvsp: ENST00000400445.3:c.6519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6510C>T
  hgvsp: ENST00000379939.2:c.6510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile2173Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/13-36046609-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046609
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046609
    reference: chr 13
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6521C>A
  hgvsp: ENSP00000383295.3:p.Thr2174Asn
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6512C>A
  hgvsp: ENSP00000369271.1:p.Thr2171Asn
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6521C>A
  hgvsp: ENSP00000440951.1:p.Thr2174Asn
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6521C>A
  hgvsp: ENSP00000308534.4:p.Thr2174Asn
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9890
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr2174Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

13-36046611-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046611
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046611
    reference: chr 13
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6523A>G
  hgvsp: ENSP00000308534.4:p.Thr2175Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6523A>G
  hgvsp: ENSP00000440951.1:p.Thr2175Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6514A>G
  hgvsp: ENSP00000369271.1:p.Thr2172Ala
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6523A>G
  hgvsp: ENSP00000383295.3:p.Thr2175Ala
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25158
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 201
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr2175Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

13-36046613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046613
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046613
    reference: chr 13
allele count: 4
allele frequency: 3.317244696555041e-5
allele num: 120582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6525G>T
  hgvsp: ENST00000540320.1:c.6525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6525G>T
  hgvsp: ENST00000310336.4:c.6525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6516G>T
  hgvsp: ENST00000379939.2:c.6516G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6525G>T
  hgvsp: ENST00000400445.3:c.6525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15907
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7236
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr2175Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

13-36046615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046615
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046615
    reference: chr 13
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6527C>T
  hgvsp: ENSP00000308534.4:p.Thr2176Ile
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6527C>T
  hgvsp: ENSP00000440951.1:p.Thr2176Ile
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6527C>T
  hgvsp: ENSP00000383295.3:p.Thr2176Ile
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6518C>T
  hgvsp: ENSP00000369271.1:p.Thr2173Ile
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2176Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

13-36046620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046620
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046620
    reference: chr 13
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6532A>G
  hgvsp: ENSP00000308534.4:p.Ile2178Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6523A>G
  hgvsp: ENSP00000369271.1:p.Ile2175Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6532A>G
  hgvsp: ENSP00000383295.3:p.Ile2178Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6532A>G
  hgvsp: ENSP00000440951.1:p.Ile2178Val
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile2178Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

13-36046635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046635
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046635
    reference: chr 13
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6547G>A
  hgvsp: ENSP00000440951.1:p.Asp2183Asn
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6547G>A
  hgvsp: ENSP00000383295.3:p.Asp2183Asn
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6547G>A
  hgvsp: ENSP00000308534.4:p.Asp2183Asn
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6538G>A
  hgvsp: ENSP00000369271.1:p.Asp2180Asn
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 60
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genotype quality: GenotypeQuality
  all individuals: 9854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp2183Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

13-36046636-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046636
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046636
    reference: chr 13
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6548A>T
  hgvsp: ENSP00000440951.1:p.Asp2183Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6539A>T
  hgvsp: ENSP00000369271.1:p.Asp2180Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6548A>T
  hgvsp: ENSP00000383295.3:p.Asp2183Val
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6548A>T
  hgvsp: ENSP00000308534.4:p.Asp2183Val
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19910
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp2183Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

13-36046643-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046643
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046643
    reference: chr 13
allele count: 3
allele frequency: 2.487644697999934e-5
allele num: 120596
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6555T>G
  hgvsp: ENSP00000383295.3:p.Asp2185Glu
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6546T>G
  hgvsp: ENSP00000369271.1:p.Asp2182Glu
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6555T>G
  hgvsp: ENSP00000308534.4:p.Asp2185Glu
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6555T>G
  hgvsp: ENSP00000440951.1:p.Asp2185Glu
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2185Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

13-36046664-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046664
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046664
    reference: chr 13
allele count: 2
allele frequency: 1.65873239670244e-5
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6576C>G
  hgvsp: ENSP00000308534.4:p.Ile2192Met
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6576C>G
  hgvsp: ENSP00000440951.1:p.Ile2192Met
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6576C>G
  hgvsp: ENSP00000383295.3:p.Ile2192Met
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6567C>G
  hgvsp: ENSP00000369271.1:p.Ile2189Met
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9827
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genotype quality: GenotypeQuality
  all individuals: 25329
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 90
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile2192Met
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

13-36046669-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046669
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046669
    reference: chr 13
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6581C>G
  hgvsp: ENSP00000440951.1:p.Thr2194Arg
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6581C>G
  hgvsp: ENSP00000383295.3:p.Thr2194Arg
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6572C>G
  hgvsp: ENSP00000369271.1:p.Thr2191Arg
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6581C>G
  hgvsp: ENSP00000308534.4:p.Thr2194Arg
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25390
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr2194Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

13-36046669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046669
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046669
    reference: chr 13
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6572C>T
  hgvsp: ENSP00000369271.1:p.Thr2191Met
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6581C>T
  hgvsp: ENSP00000383295.3:p.Thr2194Met
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6581C>T
  hgvsp: ENSP00000308534.4:p.Thr2194Met
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6581C>T
  hgvsp: ENSP00000440951.1:p.Thr2194Met
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr2194Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

13-36046670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046670
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046670
    reference: chr 13
allele count: 2
allele frequency: 1.65873239670244e-5
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6573G>A
  hgvsp: ENST00000379939.2:c.6573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6582G>A
  hgvsp: ENST00000540320.1:c.6582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6582G>A
  hgvsp: ENST00000400445.3:c.6582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6582G>A
  hgvsp: ENST00000310336.4:c.6582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25377
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr2194Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-36046676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046676
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046676
    reference: chr 13
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+3G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+3G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+3G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+3G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 9.25e1
  variant carriers: 0
hgvs: c.6585+3G>A
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

13-36046685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046685
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046685
    reference: chr 13
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+12C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+12C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+12C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+12C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

13-36046693-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046693
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046693
    reference: chr 13
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+20T>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+20T>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+20T>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+20T>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

13-36046693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046693
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046693
    reference: chr 13
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+20T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+20T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+20T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+20T>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

13-36046694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046694
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046694
    reference: chr 13
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+21G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+21G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+21G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+21G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19632
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

13-36046697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046697
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046697
    reference: chr 13
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+24C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+24C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+24C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+24C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 523
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 4062
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genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-36046717-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046717
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046717
    reference: chr 13
allele count: 7
allele frequency: 5.81694892718842e-5
allele num: 120338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+44C>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+44C>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+44C>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+44C>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1385
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genotype quality: GenotypeQuality
  all individuals: 7903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3690
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

13-36046719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046719
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046719
    reference: chr 13
allele count: 3
allele frequency: 2.496587996404913e-5
allele num: 120164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+46G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+46G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+46G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+46G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16264
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7208
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7862
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

13-36046720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046720
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046720
    reference: chr 13
allele count: 643
allele frequency: 5.345859660791486e-3
allele num: 120280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+47G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+47G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+47G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+47G>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 2.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 3.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 16037
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7753
  bin: 9.75e1
  variant carriers: 618
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16584
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 14
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

13-36046723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36046723
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36046723
    reference: chr 13
allele count: 5
allele frequency: 4.159872208725748e-5
allele num: 120196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+50G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+50G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+50G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+50G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15924
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

13-36049172-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049172
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049172
    reference: chr 13
allele count: 1
allele frequency: 8.8467390919707e-6
allele num: 113036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2499T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2499T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.*24A>C
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2499T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2499T>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20447
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5621
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

13-36049176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049176
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049176
    reference: chr 13
allele count: 1
allele frequency: 8.805452336086505e-6
allele num: 113566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2503G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.*20C>T
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2503G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2503G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2503G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

13-36049182-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049182
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049182
    reference: chr 13
allele count: 1
allele frequency: 8.737898011254413e-6
allele num: 114444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2509G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2509G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2509G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.*14C>G
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2509G>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

13-36049190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049190
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049190
    reference: chr 13
allele count: 4
allele frequency: 3.454171775962418e-5
allele num: 115802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2517C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2517C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2517C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.*6G>A
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2517C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20446
  bin: 9.75e1
  variant carriers: 4
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: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/13-36049191-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049191
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049191
    reference: chr 13
allele count: 2
allele frequency: 1.72114077210375e-5
allele num: 116202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2518A>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2518A>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.*5T>G
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2518A>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2518A>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20444
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

13-36049202-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049202
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049202
    reference: chr 13
allele count: 1
allele frequency: 8.445232666159953e-6
allele num: 118410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2529T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2529T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1074A>C
  hgvsp: ENSP00000369251.4:p.Lys358Asn
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2529T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2529T>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys358Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

13-36049210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049210
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049210
    reference: chr 13
allele count: 6
allele frequency: 5.021760964178105e-5
allele num: 119480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2537A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2537A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1066T>C
  hgvsp: ENST00000379919.4:c.1066T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2537A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2537A>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu356Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

13-36049215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049215
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049215
    reference: chr 13
allele count: 1
allele frequency: 8.333472224537076e-6
allele num: 119998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2542T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2542T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1061A>G
  hgvsp: ENSP00000369251.4:p.Lys354Arg
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2542T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2542T>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20441
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys354Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

13-36049216-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049216
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049216
    reference: chr 13
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2543T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2543T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2543T>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1060A>C
  hgvsp: ENSP00000369251.4:p.Lys354Gln
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2543T>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys354Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

13-36049224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049224
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049224
    reference: chr 13
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2551G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2551G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2551G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1052C>T
  hgvsp: ENSP00000369251.4:p.Thr351Ile
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2551G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr351Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

13-36049229-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049229
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049229
    reference: chr 13
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1047C>G
  hgvsp: ENSP00000369251.4:p.Ile349Met
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2556G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2556G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2556G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2556G>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile349Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-36049243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049243
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049243
    reference: chr 13
allele count: 7
allele frequency: 5.774624649397789e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1033C>T
  hgvsp: ENST00000379919.4:c.1033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2570G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2570G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2570G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2570G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu345Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

13-36049245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049245
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049245
    reference: chr 13
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2572C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2572C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2572C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2572C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1031G>A
  hgvsp: ENSP00000369251.4:p.Arg344Gln
  variant of: http://identifiers.org/hgnc/6757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg344Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/13-36049250-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049250
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049250
    reference: chr 13
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2577C>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2577C>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2577C>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1026G>T
  hgvsp: ENST00000379919.4:c.1026G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2577C>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14935
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr342Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

13-36049251-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049251
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049251
    reference: chr 13
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2578G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2578G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2578G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2578G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1025C>A
  hgvsp: ENSP00000369251.4:p.Thr342Lys
  variant of: http://identifiers.org/hgnc/6757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20430
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr342Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

13-36049255-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049255
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049255
    reference: chr 13
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1021C>A
  hgvsp: ENSP00000369251.4:p.Gln341Lys
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2582G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2582G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2582G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2582G>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln341Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

13-36049259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049259
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049259
    reference: chr 13
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2586G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1017C>T
  hgvsp: ENST00000379919.4:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2586G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2586G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2586G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14988
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala339Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

13-36049265-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049265
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049265
    reference: chr 13
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2592G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2592G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2592G>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.1011C>A
  hgvsp: ENSP00000369251.4:p.Asn337Lys
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2592G>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn337Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

13-36049280-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049280
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049280
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.996C>G
  hgvsp: ENSP00000369251.4:p.His332Gln
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2607G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2607G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2607G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2607G>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His332Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

13-36049297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049297
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049297
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2624A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2624A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2624A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.979T>C
  hgvsp: ENSP00000369251.4:p.Phe327Leu
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2624A>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20425
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe327Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/13-36049321-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049321
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049321
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.955T>G
  hgvsp: ENSP00000369251.4:p.Tyr319Asp
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2648A>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2648A>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2648A>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2648A>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr319Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

13-36049321-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049321
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049321
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2648A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.955T>C
  hgvsp: ENSP00000369251.4:p.Tyr319His
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2648A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2648A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2648A>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr319His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

13-36049322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049322
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049322
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.954C>T
  hgvsp: ENST00000379919.4:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2649G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2649G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2649G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2649G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20424
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His318His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

13-36049346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049346
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049346
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2673G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.930C>T
  hgvsp: ENST00000379919.4:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2673G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2673G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2673G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20423
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys310Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

13-36049355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049355
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049355
    reference: chr 13
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2682A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2682A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2682A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.921T>C
  hgvsp: ENST00000379919.4:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2682A>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu307Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

13-36049358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049358
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049358
    reference: chr 13
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2685T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.918A>G
  hgvsp: ENST00000379919.4:c.918A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2685T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2685T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2685T>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20423
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln306Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

13-36049376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049376
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049376
    reference: chr 13
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2703C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2703C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.900G>A
  hgvsp: ENST00000379919.4:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2703C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2703C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu300Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

13-36049381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049381
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049381
    reference: chr 13
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2708G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.895C>T
  hgvsp: ENSP00000369251.4:p.Arg299Trp
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2708G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2708G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2708G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg299Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-36049396-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049396
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049396
    reference: chr 13
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2723A>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2723A>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.880T>A
  hgvsp: ENSP00000369251.4:p.Ser294Thr
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2723A>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2723A>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser294Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

13-36049400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049400
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049400
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2727G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.876C>T
  hgvsp: ENST00000379919.4:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2727G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2727G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2727G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp292Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

13-36049400-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049400
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049400
    reference: chr 13
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2727G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2727G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2727G>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.876C>G
  hgvsp: ENSP00000369251.4:p.Asp292Glu
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2727G>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp292Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

13-36049410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049410
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049410
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2737G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2737G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2737G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.866C>T
  hgvsp: ENSP00000369251.4:p.Ser289Leu
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2737G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser289Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

13-36049415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049415
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049415
    reference: chr 13
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.861A>G
  hgvsp: ENST00000379919.4:c.861A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2742T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2742T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2742T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2742T>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20410
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg287Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

13-36049416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049416
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049416
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2743C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.860G>A
  hgvsp: ENSP00000369251.4:p.Arg287Gln
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2743C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2743C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2743C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg287Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

13-36049417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049417
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049417
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.859C>T
  hgvsp: ENSP00000369251.4:p.Arg287Ter
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2744G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2744G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2744G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2744G>A
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg287Ter
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: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

13-36049419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049419
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049419
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2746G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2746G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2746G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2746G>A
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.857C>T
  hgvsp: ENSP00000369251.4:p.Pro286Leu
  variant of: http://identifiers.org/hgnc/6757
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro286Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

13-36049424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049424
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049424
    reference: chr 13
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2751C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.852G>A
  hgvsp: ENST00000379919.4:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2751C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2751C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2751C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys284Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

13-36049433-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049433
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049433
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2760C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2760C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2760C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2760C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.843G>C
  hgvsp: ENSP00000369251.4:p.Glu281Asp
  variant of: http://identifiers.org/hgnc/6757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu281Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

13-36049445-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049445
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049445
    reference: chr 13
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2772C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2772C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.831G>C
  hgvsp: ENST00000379919.4:c.831G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2772C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2772C>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20393
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu277Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-36049450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049450
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049450
    reference: chr 13
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.826A>G
  hgvsp: ENSP00000369251.4:p.Thr276Ala
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2777T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2777T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2777T>C
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2777T>C
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr276Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

13-36049451-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049451
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049451
    reference: chr 13
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2778C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2778C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.825G>C
  hgvsp: ENSP00000369251.4:p.Lys275Asn
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2778C>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2778C>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys275Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

13-36049451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049451
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049451
    reference: chr 13
allele count: 14
allele frequency: 1.153174524727357e-4
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2778C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.825G>A
  hgvsp: ENST00000379919.4:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2778C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2778C>T
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2778C>T
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20400
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys275Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

13-36049455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36049455
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36049455
    reference: chr 13
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180660
  ensembl protein: ENSP00000369251
  ensembl transcript: ENST00000379919
  gene symbol: MAB21L1
  hgvsc: ENST00000379919.4:c.821T>C
  hgvsp: ENSP00000369251.4:p.Met274Thr
  variant of: http://identifiers.org/hgnc/6757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000440951
  ensembl transcript: ENST00000540320
  gene symbol: NBEA
  hgvsc: ENST00000540320.1:c.6585+2782A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000383295
  ensembl transcript: ENST00000400445
  gene symbol: NBEA
  hgvsc: ENST00000400445.3:c.6585+2782A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000369271
  ensembl transcript: ENST00000379939
  gene symbol: NBEA
  hgvsc: ENST00000379939.2:c.6576+2782A>G
  variant of: http://identifiers.org/hgnc/7648
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172915
  ensembl protein: ENSP00000308534
  ensembl transcript: ENST00000310336
  gene symbol: NBEA
  hgvsc: ENST00000310336.4:c.6585+2782A>G
  variant of: http://identifiers.org/hgnc/7648
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met274Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

GenotypeQuality
all individuals: 25011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
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: 66376
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.805721e6

FS
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
all individuals: 9856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012774162448783e-5
allele num: 66384
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.895e1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 4.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 1.806131e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

GenotypeQuality
all individuals: 4152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

VQSLOD
type: SiteQuality
SIO_000300: -9.006999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

FS
type: SiteQuality
SIO_000300: 1.0528e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.806905e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 2168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7232
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.043318348998774e-4
allele num: 9788
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 6.683e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.811353e6

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505992970650966e-5
allele num: 66578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.839e0

DP
type: SiteQuality
SIO_000300: 1.811793e6

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 5.575e0

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

DP
type: SiteQuality
SIO_000300: 1.812821e6

FS
type: SiteQuality
SIO_000300: 1.019e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.806e0

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.56e-1

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.439e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 1.813307e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9904
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 3.801e0

QD
type: SiteQuality
SIO_000300: 1.094e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.813478e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9890
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GenotypeQuality
all individuals: 4
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 2.122e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 1.814006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.141e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.353e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 1.814144e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.64e-2

FS
type: SiteQuality
SIO_000300: 2.828e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 16478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

VQSLOD
type: SiteQuality
SIO_000300: -2.132e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.814051e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.479471120389701e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.527e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.814519e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.812e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.814372e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.815017e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 5.912e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.858e0

QD
type: SiteQuality
SIO_000300: 1.651e1

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

South Asian
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allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.15e1

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7239
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4148
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.816018e6

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.938e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.033e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 66630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.815233e6

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 4.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
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: 16478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.104e0

DP
type: SiteQuality
SIO_000300: 1.815233e6

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.823e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.206e0

MQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.446e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.362e0

QD
type: SiteQuality
SIO_000300: 9.92e0

DP
type: SiteQuality
SIO_000300: 1.815337e6

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.452e0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 1.813067e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.589e0

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e0

MQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 9690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

DP
type: SiteQuality
SIO_000300: 1.810385e6

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
all individuals: 3754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

DP
type: SiteQuality
SIO_000300: 1.803231e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 3.288e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

GenotypeQuality
all individuals: 1783
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7237
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
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: 66602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 3.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.803231e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

GenotypeQuality
all individuals: 4088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 1.80325e6

FS
type: SiteQuality
SIO_000300: 1.527e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

GenotypeQuality
all individuals: 7236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

DP
type: SiteQuality
SIO_000300: 1.801591e6

VQSLOD
type: SiteQuality
SIO_000300: -9.164e-1

FS
type: SiteQuality
SIO_000300: 1.518e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.695e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 3738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05225181889243e-4
allele num: 66524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.754843e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
all individuals: 2024
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17290
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.605523710265763e-4
allele num: 11514
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.883e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 7.37e0

DP
type: SiteQuality
SIO_000300: 1.752596e6

GenotypeQuality
all individuals: 654
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.25e1
variant carriers: 4

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 597
allele frequency: 6.128105111886676e-2
allele num: 9742
num of homozygotes: 14

Latino
type: Population
allele count: 34
allele frequency: 2.951901371765932e-3
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.353505579450778e-4
allele num: 66494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

FS
type: SiteQuality
SIO_000300: 8.33e-1

DP
type: SiteQuality
SIO_000300: 1.756577e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.12e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

GenotypeQuality
all individuals: 3694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7493
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.608242044861763e-4
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21758188238159e-4
allele num: 16426
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 2.602e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.759611e6

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.558712769599452e-5
allele num: 11684
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.404e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

FS
type: SiteQuality
SIO_000300: 8.478e0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 2.207857e6

QD
type: SiteQuality
SIO_000300: 1.451e1

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

GenotypeQuality
all individuals: 4465
bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 83
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12020
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552602161222208e-5
allele num: 64408
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.14e1

DP
type: SiteQuality
SIO_000300: 2.213442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -1.898e0

FS
type: SiteQuality
SIO_000300: 1.788e0

VQSLOD
type: SiteQuality
SIO_000300: -1.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.257e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 3824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 4664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5663
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547221190741428e-5
allele num: 64632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.223371e6

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

FS
type: SiteQuality
SIO_000300: 3.897e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
all individuals: 2583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.149494204101712e-5
allele num: 65046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 1.334e0

QD
type: SiteQuality
SIO_000300: 1.098e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

DP
type: SiteQuality
SIO_000300: 2.238201e6

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 2638
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GenotypeQuality
all individuals: 11822
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13720
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 2.240958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4698
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 5834
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.262e0

VQSLOD
type: SiteQuality
SIO_000300: -8.389e-1

DP
type: SiteQuality
SIO_000300: 2.262567e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 4.151e0

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.363e1

DP
type: SiteQuality
SIO_000300: 2.273757e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 50
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.205013651030033e-5
allele num: 16116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.278669e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.745e1

VQSLOD
type: SiteQuality
SIO_000300: -8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.189650903689032e-5
allele num: 16156
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.691e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.389e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.286771e6

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6043
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.289128e6

VQSLOD
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049758555532228e-4
allele num: 66682
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.478e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.29263e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

FS
type: SiteQuality
SIO_000300: 4.9e0

DP
type: SiteQuality
SIO_000300: 2.292467e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 2.293182e6

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.877e1

DP
type: SiteQuality
SIO_000300: 2.293349e6

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14949
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

VQSLOD
type: SiteQuality
SIO_000300: -3.885e-1

DP
type: SiteQuality
SIO_000300: 2.293494e6

QD
type: SiteQuality
SIO_000300: 1.06e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

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

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

GenotypeQuality
all individuals: 4725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 2.293673e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2643
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.293905e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
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SIO_000300: 2.294039e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

South Asian
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.784e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

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

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

FS
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

East Asian
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South Asian
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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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variant carriers: 1

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

Latino
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East Asian
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allele num: 8654
num of homozygotes: 0

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

Other
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European (Non-Finnish)
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele num: 8654
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

South Asian
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num of homozygotes: 0

Latino
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allele num: 11576
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African
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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QD
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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InbreedingCoeff
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FS
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QD
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.897e1

FS
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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SIO_000300: 2.293098e6

QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 2.293226e6

FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.292662e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
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Latino
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allele frequency: 8.637070305752289e-5
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African
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allele num: 10404
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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DP
type: SiteQuality
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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