14-94527227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527227
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527227
    reference: chr 14
allele count: 6
allele frequency: 5.06141179646376e-5
allele num: 118544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1482+32C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1397+32C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.647+32C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1268+32C>T
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15217
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-94527232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527232
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527232
    reference: chr 14
allele count: 830
allele frequency: 6.985238423860901e-3
allele num: 118822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.647+27C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1482+27C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1397+27C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1268+27C>T
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 3.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 2.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 3.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 14757
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 4.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4596
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14867
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15762
  bin: 9.75e1
  variant carriers: 797
num of homozygotes: 24
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

14-94527235-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527235
    reference: chr 14
allele count: 1
allele frequency: 8.400961069946402e-6
allele num: 119034
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1397+24C>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1482+24C>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.647+24C>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1268+24C>A
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5109
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

14-94527236-A-AAAAGAGAAGTGCCATCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527253
    reference: chr 14
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: AAAAGAGAAGTGCCATCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-94527236-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527236
    reference: chr 14
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.647+23T>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1397+23T>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1268+23T>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1482+23T>G
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

14-94527236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527236
    reference: chr 14
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.647+23T>C
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1482+23T>C
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1268+23T>C
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1397+23T>C
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6278
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

14-94527246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527246
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527246
    reference: chr 14
allele count: 1
allele frequency: 8.345294922722569e-6
allele num: 119828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1268+13A>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1397+13A>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1482+13A>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.647+13A>G
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15475
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-94527265-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527265
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527265
    reference: chr 14
allele count: 3
allele frequency: 2.479297862845242e-5
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1262A>C
  hgvsp: ENSP00000452145.1:p.Gln421Pro
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1391A>C
  hgvsp: ENSP00000328690.5:p.Gln464Pro
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.641A>C
  hgvsp: ENSP00000440623.1:p.Gln214Pro
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1476A>C
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15523
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln464Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

14-94527268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527268
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527268
    reference: chr 14
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1259G>A
  hgvsp: ENSP00000452145.1:p.Arg420Gln
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1473G>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.638G>A
  hgvsp: ENSP00000440623.1:p.Arg213Gln
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1388G>A
  hgvsp: ENSP00000328690.5:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg463Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

14-94527269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527269
    reference: chr 14
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1258C>T
  hgvsp: ENSP00000452145.1:p.Arg420Trp
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1472C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.637C>T
  hgvsp: ENSP00000440623.1:p.Arg213Trp
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1387C>T
  hgvsp: ENSP00000328690.5:p.Arg463Trp
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg463Trp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-94527269-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527269
    reference: chr 14
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1387C>A
  hgvsp: ENST00000330836.5:c.1387C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.637C>A
  hgvsp: ENST00000544005.1:c.637C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1258C>A
  hgvsp: ENST00000555054.1:c.1258C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1472C>A
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg463Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-94527273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527273
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527273
    reference: chr 14
allele count: 3
allele frequency: 2.474675817467912e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1254C>A
  hgvsp: ENSP00000452145.1:p.Asn418Lys
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1468C>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1383C>A
  hgvsp: ENSP00000328690.5:p.Asn461Lys
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.633C>A
  hgvsp: ENSP00000440623.1:p.Asn211Lys
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15539
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn461Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

14-94527316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527316
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527316
    reference: chr 14
allele count: 18
allele frequency: 1.482848386990477e-4
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1425G>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.590G>A
  hgvsp: ENSP00000440623.1:p.Arg197Gln
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1340G>A
  hgvsp: ENSP00000328690.5:p.Arg447Gln
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1211G>A
  hgvsp: ENSP00000452145.1:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg447Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-94527317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527317
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527317
    reference: chr 14
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.589C>T
  hgvsp: ENSP00000440623.1:p.Arg197Trp
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1339C>T
  hgvsp: ENSP00000328690.5:p.Arg447Trp
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1424C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1210C>T
  hgvsp: ENSP00000452145.1:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6631
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg447Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

14-94527323-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527323
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527323
    reference: chr 14
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1204C>G
  hgvsp: ENSP00000452145.1:p.Pro402Ala
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.583C>G
  hgvsp: ENSP00000440623.1:p.Pro195Ala
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1333C>G
  hgvsp: ENSP00000328690.5:p.Pro445Ala
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1418C>G
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15565
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.25e1
  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: 18487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro445Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

14-94527329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527329
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527329
    reference: chr 14
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1327G>A
  hgvsp: ENSP00000328690.5:p.Ala443Thr
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1198G>A
  hgvsp: ENSP00000452145.1:p.Ala400Thr
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1412G>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.577G>A
  hgvsp: ENSP00000440623.1:p.Ala193Thr
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala443Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

14-94527344-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527344
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527344
    reference: chr 14
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1397C>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1183C>G
  hgvsp: ENSP00000452145.1:p.Pro395Ala
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.562C>G
  hgvsp: ENSP00000440623.1:p.Pro188Ala
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1312C>G
  hgvsp: ENSP00000328690.5:p.Pro438Ala
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15567
  bin: 9.75e1
  variant carriers: 1
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: 6629
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro438Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-94527346-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527346
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527346
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.560G>T
  hgvsp: ENSP00000440623.1:p.Arg187Leu
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1181G>T
  hgvsp: ENSP00000452145.1:p.Arg394Leu
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1310G>T
  hgvsp: ENSP00000328690.5:p.Arg437Leu
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1395G>T
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5289
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genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18490
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg437Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

14-94527346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527346
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527346
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1310G>A
  hgvsp: ENSP00000328690.5:p.Arg437His
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1181G>A
  hgvsp: ENSP00000452145.1:p.Arg394His
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.560G>A
  hgvsp: ENSP00000440623.1:p.Arg187His
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1395G>A
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
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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
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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
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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: 4922
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg437His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-94527347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527347
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527347
    reference: chr 14
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1394C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.559C>T
  hgvsp: ENSP00000440623.1:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1180C>T
  hgvsp: ENSP00000452145.1:p.Arg394Cys
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1309C>T
  hgvsp: ENSP00000328690.5:p.Arg437Cys
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.75e1
  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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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
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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: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg437Cys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-94527349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527349
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527349
    reference: chr 14
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.557G>A
  hgvsp: ENSP00000440623.1:p.Arg186His
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1307G>A
  hgvsp: ENSP00000328690.5:p.Arg436His
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1178G>A
  hgvsp: ENSP00000452145.1:p.Arg393His
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1392G>A
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg436His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-18439901-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18439901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18439901
    reference: chr 12
allele count: 1
allele frequency: 4.233341800016933e-5
allele num: 23622
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.761+38T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.136+38T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*58+38T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.761+38T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.761+38T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.761+38T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-1566A>C
  variant of: http://identifiers.org/hgnc/26213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-18443746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443746
    reference: chr 12
allele count: 18
allele frequency: 2.750779387493123e-4
allele num: 65436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-43G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5411C>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-43G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-43G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-43G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-43G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-43G>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21769
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

12-18443746-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443746
    reference: chr 12
allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5411C>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-43G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-43G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-43G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-43G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-43G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-43G>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

14-94527351-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527351
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527351
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1176C>G
  hgvsp: ENSP00000452145.1:p.Asn392Lys
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1390C>G
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1305C>G
  hgvsp: ENSP00000328690.5:p.Asn435Lys
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.555C>G
  hgvsp: ENSP00000440623.1:p.Asn185Lys
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 7.75e1
  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: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn435Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-94527354-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527354
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527354
    reference: chr 14
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1302G>T
  hgvsp: ENST00000330836.5:c.1302G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.552G>T
  hgvsp: ENST00000544005.1:c.552G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1387G>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1173G>T
  hgvsp: ENST00000555054.1:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  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: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15576
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu434Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

14-94527360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527360
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527360
    reference: chr 14
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1167G>A
  hgvsp: ENST00000555054.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1381G>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.546G>A
  hgvsp: ENST00000544005.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1296G>A
  hgvsp: ENST00000330836.5:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15579
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg432Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-94527375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527375
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527375
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.531G>A
  hgvsp: ENST00000544005.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1281G>A
  hgvsp: ENST00000330836.5:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1366G>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1152G>A
  hgvsp: ENST00000555054.1:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  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: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr427Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-94527376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527376
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527376
    reference: chr 14
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.530C>T
  hgvsp: ENSP00000440623.1:p.Thr177Met
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1280C>T
  hgvsp: ENSP00000328690.5:p.Thr427Met
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1365C>T
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1151C>T
  hgvsp: ENSP00000452145.1:p.Thr384Met
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 7.75e1
  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: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15584
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr427Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

14-94527376-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527376
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527375
    reference: chr 14
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1150delA
  hgvsp: ENSP00000452145.1:p.Thr384ArgfsTer8
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1279delA
  hgvsp: ENSP00000328690.5:p.Thr427ArgfsTer8
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.529delA
  hgvsp: ENSP00000440623.1:p.Thr177ArgfsTer8
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1364delA
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr427ArgfsTer8
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: GT
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

14-94527388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94527388
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 94527388
    reference: chr 14
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000328690
  ensembl transcript: ENST00000330836
  gene symbol: DDX24
  hgvsc: ENST00000330836.5:c.1268G>A
  hgvsp: ENSP00000328690.5:p.Gly423Asp
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000452145
  ensembl transcript: ENST00000555054
  gene symbol: DDX24
  hgvsc: ENST00000555054.1:c.1139G>A
  hgvsp: ENSP00000452145.1:p.Gly380Asp
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089737
  ensembl transcript: ENST00000555762
  gene symbol: DDX24
  hgvsc: ENST00000555762.1:n.1353G>A
  variant of: http://identifiers.org/hgnc/13266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089737
  ensembl protein: ENSP00000440623
  ensembl transcript: ENST00000544005
  gene symbol: DDX24
  hgvsc: ENST00000544005.1:c.518G>A
  hgvsp: ENSP00000440623.1:p.Gly173Asp
  variant of: http://identifiers.org/hgnc/13266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly423Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-18443749-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443749
    reference: chr 12
allele count: 3
allele frequency: 4.542838971501257e-5
allele num: 66038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-40G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5414C>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-40G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-40G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-40G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-40G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-40G>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-18443750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443750
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443750
    reference: chr 12
allele count: 3
allele frequency: 4.527618472683369e-5
allele num: 66260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-39G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-39G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-39G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-39G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5415C>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-39G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-39G>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-18443755-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443755
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443755
    reference: chr 12
allele count: 1
allele frequency: 1.492180971708249e-5
allele num: 67016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-34G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-34G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5420C>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-34G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-34G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-34G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-34G>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-18443762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443762
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443762
    reference: chr 12
allele count: 1
allele frequency: 1.460450987264867e-5
allele num: 68472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-27G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-27G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-27G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-27G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5427C>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-27G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-27G>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-18443772-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443772
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443772
    reference: chr 12
allele count: 1
allele frequency: 1.394350093421456e-5
allele num: 71718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-17T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-17T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5437A>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-17T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-17T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-17T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-17T>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-18443776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443776
    reference: chr 12
allele count: 1
allele frequency: 1.355380862022228e-5
allele num: 73780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-13A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-13A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-13A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5441T>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-13A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-13A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-13A>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-18443779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443779
    reference: chr 12
allele count: 20
allele frequency: 2.652660618600456e-4
allele num: 75396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-10T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-10T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-10T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-10T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-10T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5444A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-10T>C
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

12-18443784-TTCAGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443784
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443778
    reference: chr 12
allele count: 1
allele frequency: 1.275380063258851e-5
allele num: 78408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.763_768delATCAGA
  hgvsp: ENSP00000266497.5:p.Ile255_Arg256del
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*60_*65delATCAGA
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.763_768delATCAGA
  hgvsp: ENSP00000445381.1:p.Ile255_Arg256del
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.763_768delATCAGA
  hgvsp: ENSP00000404845.1:p.Ile255_Arg256del
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.763_768delATCAGA
  hgvsp: ENSP00000443850.1:p.Ile255_Arg256del
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.138_143delATCAGA
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 9.75e1
  variant carriers: 1
hgvs: c.763_768delATCAGA
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TTCAGAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-18443786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443786
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443786
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 79570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-3C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-3C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5451G>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-3C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-3C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-3C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-3C>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19528
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
hgvs: c.762-3C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-18443787-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443787
    reference: chr 12
allele count: 1
allele frequency: 1.241526581084101e-5
allele num: 80546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*59-2A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.762-2A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.762-2A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.762-2A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5452T>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.762-2A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.137-2A>C
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
hgvs: c.762-2A>C
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

12-18443799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443799
    reference: chr 12
allele count: 1
allele frequency: 1.102317070482153e-5
allele num: 90718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.147A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.772A>G
  hgvsp: ENSP00000266497.5:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5464T>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.772A>G
  hgvsp: ENSP00000443850.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.772A>G
  hgvsp: ENSP00000445381.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.772A>G
  hgvsp: ENSP00000404845.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg258Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-18443809-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443809
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443809
    reference: chr 12
allele count: 7107
allele frequency: 7.084188911704312e-2
allele num: 100322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.782C>A
  hgvsp: ENSP00000443850.1:p.Ala261Glu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*79C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.782C>A
  hgvsp: ENSP00000445381.1:p.Ala261Glu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.782C>A
  hgvsp: ENSP00000404845.1:p.Ala261Glu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.782C>A
  hgvsp: ENSP00000266497.5:p.Ala261Glu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5474G>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.157C>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.75e1
  variant carriers: 1463
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 2.75e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 27875
  bin: 2.25e1
  variant carriers: 1438
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 730
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 7.5e0
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 1.25e1
  variant carriers: 823
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 9944
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 29914
  bin: 6.25e1
  variant carriers: 60
hgvs: p.Ala261Glu
num of homozygotes: 274
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-18443816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443816
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443816
    reference: chr 12
allele count: 6
allele frequency: 5.787706910522051e-5
allele num: 103668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.789T>C
  hgvsp: ENST00000266497.5:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*86T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.789T>C
  hgvsp: ENST00000433979.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.164T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5481A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.789T>C
  hgvsp: ENST00000535651.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.789T>C
  hgvsp: ENST00000538779.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp263Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/12-18443836-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443836
    reference: chr 12
allele count: 3
allele frequency: 2.784222737819026e-5
allele num: 107750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5501T>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.809A>C
  hgvsp: ENSP00000404845.1:p.Lys270Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.809A>C
  hgvsp: ENSP00000445381.1:p.Lys270Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*106A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.809A>C
  hgvsp: ENSP00000266497.5:p.Lys270Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.809A>C
  hgvsp: ENSP00000443850.1:p.Lys270Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.184A>C
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys270Thr
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: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

12-18443849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443849
    reference: chr 12
allele count: 1
allele frequency: 9.148461228821313e-6
allele num: 109308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.822T>C
  hgvsp: ENST00000535651.1:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.822T>C
  hgvsp: ENST00000266497.5:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.822T>C
  hgvsp: ENST00000433979.1:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*119T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.197T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5514A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.822T>C
  hgvsp: ENST00000538779.1:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr274Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

12-18443852-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443852
    reference: chr 12
allele count: 17
allele frequency: 1.550953380166043e-4
allele num: 109610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.825T>G
  hgvsp: ENST00000538779.1:c.825T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.825T>G
  hgvsp: ENST00000266497.5:c.825T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5517A>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.825T>G
  hgvsp: ENST00000535651.1:c.825T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.825T>G
  hgvsp: ENST00000433979.1:c.825T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.200T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*122T>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr275Thr
num of homozygotes: 1
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-18443856-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443856
    reference: chr 12
allele count: 2
allele frequency: 1.820598248584485e-5
allele num: 109854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.829G>C
  hgvsp: ENSP00000266497.5:p.Ala277Pro
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5521C>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.829G>C
  hgvsp: ENSP00000443850.1:p.Ala277Pro
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.204G>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.829G>C
  hgvsp: ENSP00000445381.1:p.Ala277Pro
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.829G>C
  hgvsp: ENSP00000404845.1:p.Ala277Pro
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*126G>C
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala277Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-18443863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443863
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443863
    reference: chr 12
allele count: 1
allele frequency: 9.070788432930591e-6
allele num: 110244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.211C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.836C>T
  hgvsp: ENSP00000445381.1:p.Pro279Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.836C>T
  hgvsp: ENSP00000266497.5:p.Pro279Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.836C>T
  hgvsp: ENSP00000404845.1:p.Pro279Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.836C>T
  hgvsp: ENSP00000443850.1:p.Pro279Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5528G>A
  variant of: http://identifiers.org/hgnc/26213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31644
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro279Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-18443864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443864
    reference: chr 12
allele count: 6
allele frequency: 5.440597740338405e-5
allele num: 110282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.837G>A
  hgvsp: ENST00000433979.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.837G>A
  hgvsp: ENST00000535651.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.837G>A
  hgvsp: ENST00000538779.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.837G>A
  hgvsp: ENST00000266497.5:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.212G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5529C>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*134G>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27423
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro279Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-18443874-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443874
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443874
    reference: chr 12
allele count: 1
allele frequency: 8.983273145403258e-6
allele num: 111318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5539A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.847T>C
  hgvsp: ENSP00000445381.1:p.Phe283Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*144T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.847T>C
  hgvsp: ENSP00000266497.5:p.Phe283Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.847T>C
  hgvsp: ENSP00000443850.1:p.Phe283Leu
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.222T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.847T>C
  hgvsp: ENSP00000404845.1:p.Phe283Leu
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27533
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe283Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-18443874-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443874
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443874
    reference: chr 12
allele count: 1
allele frequency: 8.983273145403258e-6
allele num: 111318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.847T>G
  hgvsp: ENSP00000404845.1:p.Phe283Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.222T>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.847T>G
  hgvsp: ENSP00000266497.5:p.Phe283Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.847T>G
  hgvsp: ENSP00000443850.1:p.Phe283Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.847T>G
  hgvsp: ENSP00000445381.1:p.Phe283Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5539A>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*144T>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe283Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-18443885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443885
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443885
    reference: chr 12
allele count: 1
allele frequency: 8.926499205541571e-6
allele num: 112026
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.858C>A
  hgvsp: ENST00000433979.1:c.858C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.233C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*155C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.858C>A
  hgvsp: ENST00000538779.1:c.858C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.858C>A
  hgvsp: ENST00000535651.1:c.858C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.858C>A
  hgvsp: ENST00000266497.5:c.858C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5550G>T
  variant of: http://identifiers.org/hgnc/26213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr286Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-18443893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443893
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443893
    reference: chr 12
allele count: 1
allele frequency: 8.876422446697082e-6
allele num: 112658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.866A>G
  hgvsp: ENSP00000445381.1:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.866A>G
  hgvsp: ENSP00000404845.1:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*163A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5558T>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.866A>G
  hgvsp: ENSP00000443850.1:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.866A>G
  hgvsp: ENSP00000266497.5:p.Asn289Ser
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.241A>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn289Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-18443901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443901
    reference: chr 12
allele count: 1
allele frequency: 8.835795575033575e-6
allele num: 113176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.249A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.874A>G
  hgvsp: ENSP00000443850.1:p.Ile292Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5566T>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.874A>G
  hgvsp: ENSP00000404845.1:p.Ile292Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.874A>G
  hgvsp: ENSP00000266497.5:p.Ile292Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.874A>G
  hgvsp: ENSP00000445381.1:p.Ile292Val
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*171A>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile292Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-18443908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443908
    reference: chr 12
allele count: 51
allele frequency: 4.490701606086221e-4
allele num: 113568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.881T>C
  hgvsp: ENSP00000266497.5:p.Ile294Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5573A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*178T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.881T>C
  hgvsp: ENSP00000443850.1:p.Ile294Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.881T>C
  hgvsp: ENSP00000404845.1:p.Ile294Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.256T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.881T>C
  hgvsp: ENSP00000445381.1:p.Ile294Thr
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30277
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile294Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-18443912-TAACTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443907
    reference: chr 12
allele count: 5
allele frequency: 4.390663692723792e-5
allele num: 113878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.889_893delTCAAC
  hgvsp: ENSP00000443850.1:p.Ser297ThrfsTer10
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5582_53-5578delGAGTT
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.264_268delTCAAC
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.889_893delTCAAC
  hgvsp: ENSP00000404845.1:p.Ser297ThrfsTer10
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.889_893delTCAAC
  hgvsp: ENSP00000266497.5:p.Ser297ThrfsTer10
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*186_*190delTCAAC
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.889_893delTCAAC
  hgvsp: ENSP00000445381.1:p.Ser297ThrfsTer10
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30719
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser297ThrfsTer10
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: TAACTC
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-18443930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443930
    reference: chr 12
allele count: 3
allele frequency: 2.626004446700863e-5
allele num: 114242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.278T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5595A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.903T>C
  hgvsp: ENST00000266497.5:c.903T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*200T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.903T>C
  hgvsp: ENST00000538779.1:c.903T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.903T>C
  hgvsp: ENST00000535651.1:c.903T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.903T>C
  hgvsp: ENST00000433979.1:c.903T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu301Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-18443938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443938
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443938
    reference: chr 12
allele count: 2
allele frequency: 1.754262858746755e-5
allele num: 114008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.911T>C
  hgvsp: ENSP00000266497.5:p.Met304Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.911T>C
  hgvsp: ENSP00000443850.1:p.Met304Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.286T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.911T>C
  hgvsp: ENSP00000404845.1:p.Met304Thr
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*208T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5603A>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.911T>C
  hgvsp: ENSP00000445381.1:p.Met304Thr
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37581
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met304Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-18443955-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443955
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443955
    reference: chr 12
allele count: 7326
allele frequency: 6.466818494783115e-2
allele num: 113286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+9C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+9C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+9C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+9C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+9C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+9C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5620G>T
  variant of: http://identifiers.org/hgnc/26213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.75e1
  variant carriers: 1123
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 563
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 2.75e1
  variant carriers: 1324
genotype depth: GenotypeDepth
  all individuals: 26719
  bin: 2.25e1
  variant carriers: 1457
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 1.25e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 931
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 8833
  bin: 9.75e1
  variant carriers: 6561
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 16
num of homozygotes: 297
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

12-18443956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443956
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443956
    reference: chr 12
allele count: 2
allele frequency: 1.777967427636726e-5
allele num: 112488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+10C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+10C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+10C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5621G>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+10C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+10C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+10C>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-18443960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443960
    reference: chr 12
allele count: 1
allele frequency: 8.922516863556873e-6
allele num: 112076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+14C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+14C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+14C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+14C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5625G>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+14C>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+14C>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-18443966-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443966
    reference: chr 12
allele count: 1
allele frequency: 8.938787185354691e-6
allele num: 111872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+20A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+20A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+20A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+20A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5631T>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+20A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+20A>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-18443972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443972
    reference: chr 12
allele count: 1
allele frequency: 9.028367129520954e-6
allele num: 110762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+26C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+26C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+26C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+26C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5637G>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+26C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+26C>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-18443973-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443973
    reference: chr 12
allele count: 1
allele frequency: 9.012906482082342e-6
allele num: 110952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+27A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5638T>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+27A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+27A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+27A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+27A>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+27A>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-18443974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443974
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443974
    reference: chr 12
allele count: 4
allele frequency: 3.605097608017737e-5
allele num: 110954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+28A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+28A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+28A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+28A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5639T>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+28A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+28A>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17740
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-18443976-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443976
    reference: chr 12
allele count: 1
allele frequency: 9.015831800641928e-6
allele num: 110916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+30T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+30T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+30T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+30T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5641A>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+30T>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+30T>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-18443976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443976
    reference: chr 12
allele count: 1
allele frequency: 9.015831800641928e-6
allele num: 110916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+30T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+30T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+30T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+30T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+30T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+30T>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5641A>G
  variant of: http://identifiers.org/hgnc/26213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/12-18443979-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443979
    reference: chr 12
allele count: 1
allele frequency: 9.04093736438594e-6
allele num: 110608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+33A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5644T>G
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+33A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+33A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+33A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+33A>C
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+33A>C
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-18443982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443982
    reference: chr 12
allele count: 1
allele frequency: 9.100009100009099e-6
allele num: 109890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+36C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+36C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+36C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+36C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5647G>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+36C>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+36C>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13764
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-18443986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443986
    reference: chr 12
allele count: 1
allele frequency: 9.19793966151582e-6
allele num: 108720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+40G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+40G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+40G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+40G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5651C>T
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+40G>A
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+40G>A
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14855
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-18443990-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443990
    reference: chr 12
allele count: 13
allele frequency: 1.20203421174295e-4
allele num: 108150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+44G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+44G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+44G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+44G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+44G>T
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5655C>A
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+44G>T
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16388
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14782
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-18443992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18443992
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 18443992
    reference: chr 12
allele count: 1
allele frequency: 9.296099356709924e-6
allele num: 107572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000266497
  ensembl transcript: ENST00000266497
  gene symbol: PIK3C2G
  hgvsc: ENST00000266497.5:c.919+46A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl transcript: ENST00000536967
  gene symbol: PIK3C2G
  hgvsc: ENST00000536967.1:n.294+46A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000443850
  ensembl transcript: ENST00000535651
  gene symbol: PIK3C2G
  hgvsc: ENST00000535651.1:c.919+46A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000441618
  ensembl transcript: ENST00000546003
  gene symbol: PIK3C2G
  hgvsc: ENST00000546003.1:c.*216+46A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111404
  ensembl transcript: ENST00000541632
  gene symbol: RERGL
  hgvsc: ENST00000541632.1:n.53-5657T>C
  variant of: http://identifiers.org/hgnc/26213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000404845
  ensembl transcript: ENST00000433979
  gene symbol: PIK3C2G
  hgvsc: ENST00000433979.1:c.919+46A>G
  variant of: http://identifiers.org/hgnc/8973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139144
  ensembl protein: ENSP00000445381
  ensembl transcript: ENST00000538779
  gene symbol: PIK3C2G
  hgvsc: ENST00000538779.1:c.919+46A>G
  variant of: http://identifiers.org/hgnc/8973
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 14378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.678242286630158e-5
allele num: 14974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.880969183721477e-4
allele num: 8502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.273e0

DP
type: SiteQuality
SIO_000300: 1.876498e6

FS
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

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

GenotypeQuality
all individuals: 1041
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6144
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 4
allele frequency: 4.587155963302753e-3
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 768
allele frequency: 7.418856259659969e-2
allele num: 10352
num of homozygotes: 24

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 39
allele frequency: 3.401360544217687e-3
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.985440105890139e-4
allele num: 15110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.427110827948181e-4
allele num: 65922
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.03e-2

QD
type: SiteQuality
SIO_000300: 1.448e1

DP
type: SiteQuality
SIO_000300: 1.904288e6

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3578
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15089
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.063e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

DP
type: SiteQuality
SIO_000300: 1.905941e6

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: -3.506e-1

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514463122822959e-5
allele num: 66030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.5e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 6.204e0

DP
type: SiteQuality
SIO_000300: 1.908819e6

MQRankSum
type: SiteQuality
SIO_000300: -1.593e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514463122822959e-5
allele num: 66030
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.593e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.908819e6

QD
type: SiteQuality
SIO_000300: 5.5e0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15441
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.908819e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 6.204e0

MQRankSum
type: SiteQuality
SIO_000300: -1.593e0

QD
type: SiteQuality
SIO_000300: 5.5e0

GenotypeQuality
all individuals: 2462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.928796e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
all individuals: 5284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
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: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 1.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

DP
type: SiteQuality
SIO_000300: 1.953117e6

GenotypeQuality
all individuals: 3657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5283
bin: 7.75e1
variant carriers: 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: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
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: 10402
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: 16418
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.586e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.955987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 15535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.956669e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 3.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15535
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

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

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: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 3.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.956669e6

GenotypeQuality
all individuals: 3596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502881844380403e-5
allele num: 66624
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

DP
type: SiteQuality
SIO_000300: 1.958035e6

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.605e0

FS
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15563
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 15
allele frequency: 2.248134048739546e-4
allele num: 66722
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

DP
type: SiteQuality
SIO_000300: 1.962471e6

QD
type: SiteQuality
SIO_000300: 1.444e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15564
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 11568
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 1.962361e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2515
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6626
bin: 6.75e1
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: 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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.721e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.066e0

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.96253e6

FS
type: SiteQuality
SIO_000300: 2.771e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4922
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variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 8.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.654e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 1.962632e6

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.25e1
variant carriers: 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: 66730
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.7987e1

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: -2.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

DP
type: SiteQuality
SIO_000300: 1.962679e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 1.962704e6

FS
type: SiteQuality
SIO_000300: 3.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.3e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

FS
type: SiteQuality
SIO_000300: 3.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.962704e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

GenotypeQuality
all individuals: 5290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4921
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.963262e6

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

FS
type: SiteQuality
SIO_000300: 1.802e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 6625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15576
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
SIO_000300: 1.838e0

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.963303e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
all individuals: 3824
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 5.30741e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.89e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 7.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.549e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 18

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 2.793296089385475e-3
allele num: 6444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

DP
type: SiteQuality
SIO_000300: 9.28486e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.975304968759298e-5
allele num: 33610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.364e1

DP
type: SiteQuality
SIO_000300: 9.28486e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.071e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.046e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.135e0

DP
type: SiteQuality
SIO_000300: 1.963272e6

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 4.298e0

DP
type: SiteQuality
SIO_000300: 1.963319e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 18491
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variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

Other
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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
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.561e1

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: 10402
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
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BaseQRankSum
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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variant carriers: 0

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

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
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SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.963759e6

VQSLOD
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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
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

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.096e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.785e1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

DP
type: SiteQuality
SIO_000300: 1.963146e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 4.618226600985221e-4
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33998
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.018e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

DP
type: SiteQuality
SIO_000300: 9.38734e5

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 2.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.867167331612298e-5
allele num: 34088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.213368747233289e-4
allele num: 4518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 11344
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.40977e5

MQ
type: SiteQuality
SIO_000300: 5.805e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.556e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

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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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.892681515765114e-5
allele num: 34570
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 546
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 11382
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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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 count: 0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 558
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.825656965244419e-5
allele num: 35390
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

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

East Asian
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allele frequency: 1.920860545524395e-4
allele num: 5206
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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European (Finnish)
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.596997870461746e-5
allele num: 38506
num of homozygotes: 0

Latino
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European (Finnish)
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African
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East Asian
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Other
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South Asian
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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DP
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 3625
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 2.766251728907331e-3
allele num: 7230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12060
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 6.56e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

DP
type: SiteQuality
SIO_000300: 1.087902e6

GenotypeQuality
all individuals: 20418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.118201006656925e-5
allele num: 12318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 3.51e0

DP
type: SiteQuality
SIO_000300: 1.123819e6

FS
type: SiteQuality
SIO_000300: 2.635e0

MQRankSum
type: SiteQuality
SIO_000300: -5.724e0

MQ
type: SiteQuality
SIO_000300: 5.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 385
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.141078e6

QD
type: SiteQuality
SIO_000300: 1.777e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01538954793203e-5
allele num: 12476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 1.150706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 1.5109e1

VQSLOD
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15037
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.061940698585509e-5
allele num: 48498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 2.821e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 1.254826e6

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1317
bin: 2.75e1
variant carriers: 21

GenotypeQuality
all individuals: 2939
bin: 6.75e1
variant carriers: 66

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 546
bin: 4.75e1
variant carriers: 49

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 55

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 55

GenotypeQuality
all individuals: 1352
bin: 3.25e1
variant carriers: 28

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 67

GenotypeQuality
all individuals: 8583
bin: 9.75e1
variant carriers: 6275

GenotypeQuality
all individuals: 809
bin: 7.25e1
variant carriers: 48

South Asian
type: Population
allele count: 334
allele frequency: 2.397014496914023e-2
allele num: 13934
num of homozygotes: 5

African
type: Population
allele count: 128
allele frequency: 1.4991801358632e-2
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 368
allele frequency: 4.132973944294699e-2
allele num: 8904
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 377
allele frequency: 6.344665095927297e-2
allele num: 5942
num of homozygotes: 11

Other
type: Population
allele count: 56
allele frequency: 7.197943444730077e-2
allele num: 778
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 5842
allele frequency: 1.058371680133338e-1
allele num: 55198
num of homozygotes: 250

East Asian
type: Population
allele count: 2
allele frequency: 2.845759817871372e-4
allele num: 7028
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

DP
type: SiteQuality
SIO_000300: 1.430991e6

FS
type: SiteQuality
SIO_000300: 1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
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GenotypeQuality
all individuals: 3096
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.730002292000917e-4
allele num: 8726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.98909700866648e-5
allele num: 14308
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

DP
type: SiteQuality
SIO_000300: 1.375322e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 1033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.372567535664902e-5
allele num: 59302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.001401962747847e-4
allele num: 9986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.414185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 1.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34314
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3091
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 810
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661405549094534e-5
allele num: 60190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.533e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 2.843e0

DP
type: SiteQuality
SIO_000300: 1.422301e6

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

GenotypeQuality
all individuals: 1056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1789
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1640
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60372
num of homozygotes: 0

African
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allele count: 17
allele frequency: 1.865671641791045e-3
allele num: 9112
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.424377e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1876
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variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.329080276448698e-4
allele num: 15048
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 3.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.423993e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.648152421135907e-5
allele num: 60674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

DP
type: SiteQuality
SIO_000300: 1.424027e6

FS
type: SiteQuality
SIO_000300: 2.977e0

VQSLOD
type: SiteQuality
SIO_000300: -3.636e-1

QD
type: SiteQuality
SIO_000300: 7.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.621639517944644e-5
allele num: 15102
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.09217999126256e-4
allele num: 9156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.279099513942185e-4
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.295218637756615e-5
allele num: 60694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 3.199e0

DP
type: SiteQuality
SIO_000300: 1.427822e6

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 1513
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1858
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.267427122940431e-4
allele num: 7890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3143e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 1.430686e6

GenotypeQuality
all individuals: 1022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 286
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632226683641824e-5
allele num: 61266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3143e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

DP
type: SiteQuality
SIO_000300: 1.430686e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1092
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.44189e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 3.053e0

QD
type: SiteQuality
SIO_000300: 5.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.184e0

GenotypeQuality
all individuals: 150
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.488450558006747e-5
allele num: 15412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.567e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.448562e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 1.653e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

VQSLOD
type: SiteQuality
SIO_000300: -5.092e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Latino
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: 9348
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62334
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.2465719272002e-4
allele num: 8022
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 49

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 514
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variant carriers: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.225648303444717e-3
allele num: 15502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.114925993414533e-4
allele num: 62562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.467114e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.423e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.287332646755922e-4
allele num: 15536
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.237623762376238e-4
allele num: 8080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.188063888800331e-5
allele num: 62734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.457e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 5.645e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 9.01e0

FS
type: SiteQuality
SIO_000300: 2.996e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.471663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62888
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.683693516699411e-4
allele num: 8144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 5.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 1.477777e6

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

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.140410958904109e-4
allele num: 9344
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 2.57e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.46642e6

QD
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 20

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 42

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 12

GenotypeQuality
all individuals: 3180
bin: 6.75e1
variant carriers: 46

GenotypeQuality
all individuals: 31850
bin: 6.25e1
variant carriers: 42

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 797
bin: 7.25e1
variant carriers: 41

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 35

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 41

African
type: Population
allele count: 132
allele frequency: 1.421800947867299e-2
allele num: 9284
num of homozygotes: 0

Latino
type: Population
allele count: 394
allele frequency: 3.627324617934082e-2
allele num: 10862
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 383
allele frequency: 5.943513345747983e-2
allele num: 6444
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 6025
allele frequency: 9.646173551072687e-2
allele num: 62460
num of homozygotes: 271

East Asian
type: Population
allele count: 2
allele frequency: 2.472799208704253e-4
allele num: 8088
num of homozygotes: 0

South Asian
type: Population
allele count: 336
allele frequency: 2.195791399817017e-2
allele num: 15302
num of homozygotes: 5

Other
type: Population
allele count: 54
allele frequency: 6.382978723404255e-2
allele num: 846
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

DP
type: SiteQuality
SIO_000300: 1.454658e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 1.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.445e0

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.616448984870038e-5
allele num: 61864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.567713122290818e-5
allele num: 15226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.387236e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.561036528254761e-4
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.323e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.392e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.449e1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 3.026e0

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 1.362768e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3451
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29711
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.615506747816882e-5
allele num: 15116
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.775e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.193e-1

DP
type: SiteQuality
SIO_000300: 1.326365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

GenotypeQuality
all individuals: 1321
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.25281884239539e-4
allele num: 7982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

FS
type: SiteQuality
SIO_000300: 7.874e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

QD
type: SiteQuality
SIO_000300: 7.72e0

DP
type: SiteQuality
SIO_000300: 1.254055e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4567
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10365
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.251564455569462e-4
allele num: 7990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61020
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

DP
type: SiteQuality
SIO_000300: 1.25227e6

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22456
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.755163349605708e-4
allele num: 10652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61018
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.251833e6

FS
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.697026520225021e-5
allele num: 14932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61000
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.071e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.587e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.251495e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14932
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639344262295082e-5
allele num: 61000
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.071e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 8.587e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

DP
type: SiteQuality
SIO_000300: 1.251495e6

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

GenotypeQuality
all individuals: 2115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7059
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variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643979746169527e-5
allele num: 60828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

DP
type: SiteQuality
SIO_000300: 1.228723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.151e0

GenotypeQuality
all individuals: 2207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6125
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.797172376291462e-5
allele num: 14712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.747e0

DP
type: SiteQuality
SIO_000300: 1.209663e6

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.199e0

QD
type: SiteQuality
SIO_000300: 4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 7411
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674480910917615e-5
allele num: 59720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 1.179057e6

VQSLOD
type: SiteQuality
SIO_000300: -1.397e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 800
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7508
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.446372941700045e-3
allele num: 8988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 1.267e0

DP
type: SiteQuality
SIO_000300: 1.173483e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

GenotypeQuality
all individuals: 8044
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.5e0
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GenotypeQuality
all individuals: 2653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3046
bin: 5.25e1
variant carriers: 0