16-1584227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584227
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584227
    reference: chr 16
allele count: 2
allele frequency: 1.733643077563191e-5
allele num: 115364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7430G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7430G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-50C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7430G>A
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-1584228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584228
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584228
    reference: chr 16
allele count: 1
allele frequency: 8.665961835104079e-6
allele num: 115394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-49G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7431C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7431C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7431C>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

16-1584230-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584230
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584230
    reference: chr 16
allele count: 1
allele frequency: 8.658608388459807e-6
allele num: 115492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-47A>G
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7433T>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7433T>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7433T>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/14158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
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genotype quality: GenotypeQuality
  all individuals: 4214
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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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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 396
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3423
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genotype quality: GenotypeQuality
  all individuals: 34318
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

16-1584238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584238
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584238
    reference: chr 16
allele count: 1
allele frequency: 8.645582971659779e-6
allele num: 115666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-39T>C
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7441A>G
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-39T>C
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7441A>G
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7441A>G
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34340
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-1584246-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584246
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584246
    reference: chr 16
allele count: 1
allele frequency: 8.63155350700019e-6
allele num: 115854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-31C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7449G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7449G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-31C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7449G>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-1584248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584248
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584248
    reference: chr 16
allele count: 4
allele frequency: 3.452025475948013e-5
allele num: 115874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7451G>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7451G>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-29C>G
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7451G>C
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 34353
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-1584249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584249
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584249
    reference: chr 16
allele count: 1221
allele frequency: 1.05358529640176e-2
allele num: 115890
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7452G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7452G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-28C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7452G>A
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 5.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 6.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 5.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 4.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 12
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-1584250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584250
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584250
    reference: chr 16
allele count: 9
allele frequency: 7.762769756249029e-5
allele num: 115938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-27G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7453C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7453C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7453C>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34538
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-1584252-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584252
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584252
    reference: chr 16
allele count: 1
allele frequency: 8.617718028266114e-6
allele num: 116040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7455T>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7455T>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7455T>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-25A>G
  variant of: http://identifiers.org/hgnc/14158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

16-1584253-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584253
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584253
    reference: chr 16
allele count: 1
allele frequency: 8.614154779133072e-6
allele num: 116088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7456A>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-24T>G
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7456A>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7456A>C
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-24T>G
  variant of: http://identifiers.org/hgnc/14158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-1584257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584257
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584257
    reference: chr 16
allele count: 7
allele frequency: 6.029596706117457e-5
allele num: 116094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7460G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-20C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7460G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7460G>A
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-1584260-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584260
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584260
    reference: chr 16
allele count: 4
allele frequency: 3.439085203335912e-5
allele num: 116310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7463G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-17C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7463G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-17C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7463G>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

16-1584260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584260
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584260
    reference: chr 16
allele count: 1
allele frequency: 8.597713008339781e-6
allele num: 116310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-17C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7463G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7463G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7463G>A
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-1584261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584261
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584261
    reference: chr 16
allele count: 10
allele frequency: 8.587671538738986e-5
allele num: 116446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7464C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-16G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7464C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7464C>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-1584266-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584266
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584266
    reference: chr 16
allele count: 30
allele frequency: 2.572589912017425e-4
allele num: 116614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7469G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-11C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7469G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-11C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7469G>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

16-1584266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584266
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584266
    reference: chr 16
allele count: 3
allele frequency: 2.572589912017425e-5
allele num: 116614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7469G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7469G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7469G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-11C>T
  variant of: http://identifiers.org/hgnc/14158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34572
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-1584267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584267
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584267
    reference: chr 16
allele count: 1
allele frequency: 8.570155291213876e-6
allele num: 116684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7470C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-10G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7470C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7470C>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/16-1584269-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584269
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584269
    reference: chr 16
allele count: 1
allele frequency: 8.565163765931204e-6
allele num: 116752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7472G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7472G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-8C>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7472G>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-8C>A
  variant of: http://identifiers.org/hgnc/14158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-1584269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584269
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584269
    reference: chr 16
allele count: 1
allele frequency: 8.565163765931204e-6
allele num: 116752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7472G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-8C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7472G>A
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7472G>A
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-1584270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1584270
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1584270
    reference: chr 16
allele count: 7
allele frequency: 5.991201492665058e-5
allele num: 116838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000253934
  ensembl transcript: ENST00000253934
  gene symbol: TMEM204
  hgvsc: ENST00000253934.5:c.-7G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000380562
  ensembl transcript: ENST00000397417
  gene symbol: IFT140
  hgvsc: ENST00000397417.2:c.*952-7473C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131634
  ensembl protein: ENSP00000454945
  ensembl transcript: ENST00000566264
  gene symbol: TMEM204
  hgvsc: ENST00000566264.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/14158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl protein: ENSP00000406012
  ensembl transcript: ENST00000426508
  gene symbol: IFT140
  hgvsc: ENST00000426508.2:c.2400-7473C>T
  variant of: http://identifiers.org/hgnc/29077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187535
  ensembl transcript: ENST00000565298
  gene symbol: IFT140
  hgvsc: ENST00000565298.1:n.1088-7473C>T
  variant of: http://identifiers.org/hgnc/29077
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
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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
  all individuals: 3020
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

X-123556497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556497
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123556497
    reference: chr 0
allele count: 6
allele frequency: 7.135381980782038e-5
allele num: 84088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101972
  ensembl transcript: ENST00000469481
  gene symbol: STAG2
  hgvsc: ENST00000469481.1:n.972C>T
  variant of: http://identifiers.org/hgnc/11355
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-9G>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-9G>A
  variant of: http://identifiers.org/hgnc/8117
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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: 3744
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

X-123556501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556501
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123556501
    reference: chr 0
allele count: 1
allele frequency: 1.192094032377274e-5
allele num: 83886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101972
  ensembl transcript: ENST00000469481
  gene symbol: STAG2
  hgvsc: ENST00000469481.1:n.976C>T
  variant of: http://identifiers.org/hgnc/11355
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-13G>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-13G>A
  variant of: http://identifiers.org/hgnc/8117
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-123556509-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556509
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123556509
    reference: chr 0
allele count: 80
allele frequency: 9.567089213106913e-4
allele num: 83620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-21T>G
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-21T>G
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101972
  ensembl transcript: ENST00000469481
  gene symbol: STAG2
  hgvsc: ENST00000469481.1:n.984A>C
  variant of: http://identifiers.org/hgnc/11355
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

X-123556512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556512
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123556512
    reference: chr 0
allele count: 1
allele frequency: 1.198710187837886e-5
allele num: 83423
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-24G>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101972
  ensembl transcript: ENST00000469481
  gene symbol: STAG2
  hgvsc: ENST00000469481.1:n.987C>T
  variant of: http://identifiers.org/hgnc/11355
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-24G>A
  variant of: http://identifiers.org/hgnc/8117
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

X-123556522-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556522
    reference: chr 0
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    type: ExactPosition
    position: 24123556522
    reference: chr 0
allele count: 1
allele frequency: 1.203383915570584e-5
allele num: 83099
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-34T>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-34T>A
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 46782
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

X-123556525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556525
    reference: chr 0
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    type: ExactPosition
    position: 24123556525
    reference: chr 0
allele count: 1
allele frequency: 1.206534591346734e-5
allele num: 82882
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-37T>C
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-37T>C
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
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  allele frequency: 0.0e0
  allele num: 585
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population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
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site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
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site quality: ClippingRankSum

X-123556538-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556538
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123556538
    reference: chr 0
allele count: 37
allele frequency: 4.500176358262688e-4
allele num: 82219
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-50C>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-50C>A
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
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  allele num: 6569
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

X-123556539-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123556539
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123556539
    reference: chr 0
allele count: 1
allele frequency: 1.218442343308315e-5
allele num: 82072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4084-51T>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4105-51T>A
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9228
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

X-123587142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587142
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587142
    reference: chr 0
allele count: 2
allele frequency: 2.414146900838916e-5
allele num: 82845
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+45G>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+45G>A
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8441
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
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site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
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site quality: VQSLOD

X-123587154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587154
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587154
    reference: chr 0
allele count: 1
allele frequency: 1.203485293409715e-5
allele num: 83092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+33A>G
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+33A>G
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 4530
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population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
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X-123587156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587156
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587156
    reference: chr 0
allele count: 1
allele frequency: 1.202935161794779e-5
allele num: 83130
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+31T>C
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+31T>C
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Non-Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 46831
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
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X-123587160-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587160
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587160
    reference: chr 0
allele count: 1
allele frequency: 1.201244489290905e-5
allele num: 83247
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+27A>G
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+27A>G
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
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  allele num: 9280
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population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
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site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
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site quality: QD

X-123587168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587168
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587168
    reference: chr 0
allele count: 1
allele frequency: 1.197676507575304e-5
allele num: 83495
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+19C>T
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+19C>T
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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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  bin: 8.25e1
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8456
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

X-123587170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587170
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587170
    reference: chr 0
allele count: 11
allele frequency: 1.316120078010027e-4
allele num: 83579
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+17T>C
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+17T>C
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8458
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

X-123587180-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587180
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587180
    reference: chr 0
allele count: 1
allele frequency: 1.189060642092747e-5
allele num: 84100
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+7A>G
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+7A>G
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: c.4104+7A>G
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.076194575979337e-4
  allele num: 9292
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

X-123587182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587182
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587182
    reference: chr 0
allele count: 1
allele frequency: 1.18817057376757e-5
allele num: 84163
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4104+5G>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4083+5G>A
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: c.4104+5G>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8471
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

X-123587192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587192
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587192
    reference: chr 0
allele count: 1
allele frequency: 1.177260044971334e-5
allele num: 84943
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4099A>G
  hgvsp: ENSP00000403954.2:p.Thr1367Ala
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4078A>G
  hgvsp: ENSP00000360171.3:p.Thr1360Ala
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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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: 1312
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1367Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

X-123587197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587197
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587197
    reference: chr 0
allele count: 1
allele frequency: 1.17337839106355e-5
allele num: 85224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4094A>G
  hgvsp: ENSP00000403954.2:p.Asp1365Gly
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4073A>G
  hgvsp: ENSP00000360171.3:p.Asp1358Gly
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1365Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47424
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

X-123587217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587217
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587217
    reference: chr 0
allele count: 1
allele frequency: 1.156029270661133e-5
allele num: 86503
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4053G>A
  hgvsp: ENST00000371130.3:c.4053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4074G>A
  hgvsp: ENST00000422452.2:c.4074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Leu1358Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8506
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

X-123587224-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587224
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587224
    reference: chr 0
allele count: 2
allele frequency: 2.302661877129962e-5
allele num: 86856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4046A>G
  hgvsp: ENSP00000360171.3:p.Gln1349Arg
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4067A>G
  hgvsp: ENSP00000403954.2:p.Gln1356Arg
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gln1356Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8511
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-123587247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587247
    reference: chr 0
allele count: 1
allele frequency: 1.144583829319659e-5
allele num: 87368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4044C>T
  hgvsp: ENST00000422452.2:c.4044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4023C>T
  hgvsp: ENST00000371130.3:c.4023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly1348Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 627
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

21-34923783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923783
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923783
    reference: chr 21
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2246A>G
  hgvsp: ENSP00000399783.1:p.Asn749Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2246A>G
  hgvsp: ENSP00000300278.2:p.Asn749Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2246A>G
  hgvsp: ENSP00000371095.4:p.Asn749Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2246A>G
  hgvsp: ENSP00000290239.5:p.Asn749Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2246A>G
  hgvsp: ENSP00000348984.4:p.Asn749Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5098A>G
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn749Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

X-123587248-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587248
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587248
    reference: chr 0
allele count: 8
allele frequency: 9.156146635688371e-5
allele num: 87373
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4043G>T
  hgvsp: ENSP00000403954.2:p.Gly1348Val
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4022G>T
  hgvsp: ENSP00000360171.3:p.Gly1341Val
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 470
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5615
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1348Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8514
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

X-123587256-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587256
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587256
    reference: chr 0
allele count: 1
allele frequency: 1.143680592884019e-5
allele num: 87437
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4035T>A
  hgvsp: ENST00000422452.2:c.4035T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.4014T>A
  hgvsp: ENST00000371130.3:c.4014T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 403
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genotype depth: GenotypeDepth
  all individuals: 94
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2625
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  variant carriers: 0
hgvs: p.Thr1345Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.008878127522195e-4
  allele num: 9912
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

X-123587272-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587272
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587272
    reference: chr 0
allele count: 1
allele frequency: 1.144060040270913e-5
allele num: 87408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4019A>C
  hgvsp: ENSP00000403954.2:p.Asn1340Thr
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3998A>C
  hgvsp: ENSP00000360171.3:p.Asn1333Thr
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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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
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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: 22030
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20863
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  variant carriers: 0
hgvs: p.Asn1340Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 631
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

X-123587281-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587281
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87335
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3989T>C
  hgvsp: ENSP00000360171.3:p.Ile1330Thr
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.4010T>C
  hgvsp: ENSP00000403954.2:p.Ile1337Thr
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Ile1337Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6633
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

X-123587306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587306
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587306
    reference: chr 0
allele count: 1
allele frequency: 1.154614416515605e-5
allele num: 86609
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.3985G>A
  hgvsp: ENSP00000403954.2:p.Val1329Met
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3964G>A
  hgvsp: ENSP00000360171.3:p.Val1322Met
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Val1329Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.095864858633915e-5
  allele num: 47713
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

X-123587314-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587314
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587314
    reference: chr 0
allele count: 2
allele frequency: 2.319243926479968e-5
allele num: 86235
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009694
  ensembl transcript: ENST00000461429
  gene symbol: TENM1
  hgvsc: ENST00000461429.1:n.410T>C
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.3977T>C
  hgvsp: ENSP00000403954.2:p.Ile1326Thr
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3956T>C
  hgvsp: ENSP00000360171.3:p.Ile1319Thr
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Ile1326Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

X-123587324-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587324
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587324
    reference: chr 0
allele count: 1
allele frequency: 1.166507244009985e-5
allele num: 85726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009694
  ensembl transcript: ENST00000461429
  gene symbol: TENM1
  hgvsc: ENST00000461429.1:n.400C>G
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3946C>G
  hgvsp: ENSP00000360171.3:p.His1316Asp
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.3967C>G
  hgvsp: ENSP00000403954.2:p.His1323Asp
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.His1323Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

X-123587344-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587344
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587344
    reference: chr 0
allele count: 3
allele frequency: 3.541578127213486e-5
allele num: 84708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3929-3C>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.3950-3C>A
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl transcript: ENST00000461429
  gene symbol: TENM1
  hgvsc: ENST00000461429.1:n.383-3C>A
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20848
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3950-3C>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

X-123587353-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24123587353
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24123587353
    reference: chr 0
allele count: 3
allele frequency: 3.56311463727493e-5
allele num: 84196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000403954
  ensembl transcript: ENST00000422452
  gene symbol: TENM1
  hgvsc: ENST00000422452.2:c.3950-12C>T
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl protein: ENSP00000360171
  ensembl transcript: ENST00000371130
  gene symbol: TENM1
  hgvsc: ENST00000371130.3:c.3929-12C>T
  variant of: http://identifiers.org/hgnc/8117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009694
  ensembl transcript: ENST00000461429
  gene symbol: TENM1
  hgvsc: ENST00000461429.1:n.383-12C>T
  variant of: http://identifiers.org/hgnc/8117
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20841
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

21-34923785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923785
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923785
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5100A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2248A>G
  hgvsp: ENSP00000300278.2:p.Thr750Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2248A>G
  hgvsp: ENSP00000290239.5:p.Thr750Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2248A>G
  hgvsp: ENSP00000399783.1:p.Thr750Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2248A>G
  hgvsp: ENSP00000371095.4:p.Thr750Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2248A>G
  hgvsp: ENSP00000348984.4:p.Thr750Ala
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  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: 4023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr750Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

21-34923785-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923785
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923785
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2248A>T
  hgvsp: ENSP00000290239.5:p.Thr750Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2248A>T
  hgvsp: ENSP00000300278.2:p.Thr750Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2248A>T
  hgvsp: ENSP00000348984.4:p.Thr750Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2248A>T
  hgvsp: ENSP00000399783.1:p.Thr750Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2248A>T
  hgvsp: ENSP00000371095.4:p.Thr750Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5100A>T
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35860
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr750Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

21-34923786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923786
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923786
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5101C>T
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2249C>T
  hgvsp: ENSP00000290239.5:p.Thr750Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2249C>T
  hgvsp: ENSP00000399783.1:p.Thr750Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2249C>T
  hgvsp: ENSP00000348984.4:p.Thr750Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2249C>T
  hgvsp: ENSP00000300278.2:p.Thr750Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2249C>T
  hgvsp: ENSP00000371095.4:p.Thr750Ile
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr750Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

21-34923787-CATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923787
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923667
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsp: ENSP00000290239.5:p.Ser758_Ala797del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsp: ENSP00000348984.4:p.Ser758_Ala797del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsp: ENSP00000371095.4:p.Ser758_Ala797del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsp: ENSP00000300278.2:p.Ser758_Ala797del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsp: ENSP00000399783.1:p.Ser758_Ala797del
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser758_Ala797del
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: CATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-34923792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923792
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923792
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2255A>G
  hgvsp: ENSP00000348984.4:p.Asp752Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2255A>G
  hgvsp: ENSP00000290239.5:p.Asp752Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2255A>G
  hgvsp: ENSP00000399783.1:p.Asp752Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5107A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2255A>G
  hgvsp: ENSP00000371095.4:p.Asp752Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2255A>G
  hgvsp: ENSP00000300278.2:p.Asp752Gly
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35857
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp752Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

21-34923794-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923794
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923794
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5109T>A
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2257T>A
  hgvsp: ENSP00000300278.2:p.Ser753Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2257T>A
  hgvsp: ENSP00000348984.4:p.Ser753Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2257T>A
  hgvsp: ENSP00000290239.5:p.Ser753Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2257T>A
  hgvsp: ENSP00000371095.4:p.Ser753Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2257T>A
  hgvsp: ENSP00000399783.1:p.Ser753Thr
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser753Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

21-34923796-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923796
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923796
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2259C>G
  hgvsp: ENST00000300278.4:c.2259C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2259C>G
  hgvsp: ENST00000356577.4:c.2259C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2259C>G
  hgvsp: ENST00000455528.1:c.2259C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2259C>G
  hgvsp: ENST00000381679.4:c.2259C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5111C>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2259C>G
  hgvsp: ENST00000290239.6:c.2259C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35859
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser753Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

21-34923808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923808
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923808
    reference: chr 21
allele count: 276
allele frequency: 2.273663398962023e-3
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2271G>A
  hgvsp: ENST00000300278.4:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5123G>A
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2271G>A
  hgvsp: ENST00000455528.1:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2271G>A
  hgvsp: ENST00000381679.4:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2271G>A
  hgvsp: ENST00000356577.4:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2271G>A
  hgvsp: ENST00000290239.6:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala757Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

21-34923809-TCTAGCACCATGGACTCCCAGATGTTAGCAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923809
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923779
    reference: chr 21
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsp: ENSP00000371095.4:p.Thr760_Ser769del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsp: ENSP00000290239.5:p.Thr760_Ser769del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsp: ENSP00000399783.1:p.Thr760_Ser769del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsp: ENSP00000300278.2:p.Thr760_Ser769del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsp: ENSP00000348984.4:p.Thr760_Ser769del
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  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: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr760_Ser769del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: TCTAGCACCATGGACTCCCAGATGTTAGCAA
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

21-34923811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923811
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923811
    reference: chr 21
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2274T>C
  hgvsp: ENST00000300278.4:c.2274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2274T>C
  hgvsp: ENST00000356577.4:c.2274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2274T>C
  hgvsp: ENST00000381679.4:c.2274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5126T>C
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2274T>C
  hgvsp: ENST00000290239.6:c.2274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2274T>C
  hgvsp: ENST00000455528.1:c.2274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser758Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

21-34923812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923812
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923812
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2275A>G
  hgvsp: ENSP00000371095.4:p.Ser759Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2275A>G
  hgvsp: ENSP00000290239.5:p.Ser759Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2275A>G
  hgvsp: ENSP00000399783.1:p.Ser759Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5127A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2275A>G
  hgvsp: ENSP00000348984.4:p.Ser759Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2275A>G
  hgvsp: ENSP00000300278.2:p.Ser759Gly
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser759Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

21-34923814-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923814
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923814
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2277C>G
  hgvsp: ENSP00000399783.1:p.Ser759Arg
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2277C>G
  hgvsp: ENSP00000290239.5:p.Ser759Arg
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2277C>G
  hgvsp: ENSP00000371095.4:p.Ser759Arg
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2277C>G
  hgvsp: ENSP00000348984.4:p.Ser759Arg
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5129C>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2277C>G
  hgvsp: ENSP00000300278.2:p.Ser759Arg
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  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: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser759Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

21-34923822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923822
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923822
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5137A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2285A>G
  hgvsp: ENSP00000399783.1:p.Asp762Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2285A>G
  hgvsp: ENSP00000300278.2:p.Asp762Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2285A>G
  hgvsp: ENSP00000371095.4:p.Asp762Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2285A>G
  hgvsp: ENSP00000290239.5:p.Asp762Gly
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2285A>G
  hgvsp: ENSP00000348984.4:p.Asp762Gly
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp762Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-34923832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923832
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923832
    reference: chr 21
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2295G>A
  hgvsp: ENSP00000371095.4:p.Met765Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2295G>A
  hgvsp: ENSP00000300278.2:p.Met765Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2295G>A
  hgvsp: ENSP00000399783.1:p.Met765Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2295G>A
  hgvsp: ENSP00000348984.4:p.Met765Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2295G>A
  hgvsp: ENSP00000290239.5:p.Met765Ile
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5147G>A
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met765Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-34923838-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923838
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923838
    reference: chr 21
allele count: 7
allele frequency: 5.767392808885081e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2301A>G
  hgvsp: ENST00000290239.6:c.2301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2301A>G
  hgvsp: ENST00000356577.4:c.2301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2301A>G
  hgvsp: ENST00000381679.4:c.2301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2301A>G
  hgvsp: ENST00000300278.4:c.2301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2301A>G
  hgvsp: ENST00000455528.1:c.2301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5153A>G
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala767Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/21-34923839-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923839
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923839
    reference: chr 21
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5154A>C
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2302A>C
  hgvsp: ENSP00000399783.1:p.Thr768Pro
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2302A>C
  hgvsp: ENSP00000300278.2:p.Thr768Pro
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2302A>C
  hgvsp: ENSP00000290239.5:p.Thr768Pro
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2302A>C
  hgvsp: ENSP00000371095.4:p.Thr768Pro
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2302A>C
  hgvsp: ENSP00000348984.4:p.Thr768Pro
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  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: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr768Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

21-34923839-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923839
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923839
    reference: chr 21
allele count: 7
allele frequency: 5.767392808885081e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2302A>T
  hgvsp: ENSP00000348984.4:p.Thr768Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5154A>T
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2302A>T
  hgvsp: ENSP00000399783.1:p.Thr768Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2302A>T
  hgvsp: ENSP00000300278.2:p.Thr768Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2302A>T
  hgvsp: ENSP00000290239.5:p.Thr768Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2302A>T
  hgvsp: ENSP00000371095.4:p.Thr768Ser
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr768Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

21-34923845-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923845
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923845
    reference: chr 21
allele count: 7
allele frequency: 5.767487847079179e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2308T>A
  hgvsp: ENSP00000300278.2:p.Ser770Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2308T>A
  hgvsp: ENSP00000371095.4:p.Ser770Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2308T>A
  hgvsp: ENSP00000399783.1:p.Ser770Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2308T>A
  hgvsp: ENSP00000290239.5:p.Ser770Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2308T>A
  hgvsp: ENSP00000348984.4:p.Ser770Thr
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5160T>A
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser770Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

21-34923847-CATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923847
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923787
    reference: chr 21
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsp: ENSP00000300278.2:p.Thr790_Ser809del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsp: ENSP00000371095.4:p.Thr790_Ser809del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsp: ENSP00000399783.1:p.Thr790_Ser809del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsp: ENSP00000348984.4:p.Thr790_Ser809del
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsp: ENSP00000290239.5:p.Thr790_Ser809del
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr790_Ser809del
num of homozygotes: 1
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: CATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACT
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

21-34923864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923864
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923864
    reference: chr 21
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2327T>C
  hgvsp: ENSP00000371095.4:p.Leu776Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2327T>C
  hgvsp: ENSP00000300278.2:p.Leu776Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5179T>C
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2327T>C
  hgvsp: ENSP00000399783.1:p.Leu776Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2327T>C
  hgvsp: ENSP00000290239.5:p.Leu776Ser
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2327T>C
  hgvsp: ENSP00000348984.4:p.Leu776Ser
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35681
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu776Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-34923869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923869
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923869
    reference: chr 21
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5184A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2332A>G
  hgvsp: ENSP00000290239.5:p.Thr778Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2332A>G
  hgvsp: ENSP00000348984.4:p.Thr778Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2332A>G
  hgvsp: ENSP00000399783.1:p.Thr778Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2332A>G
  hgvsp: ENSP00000371095.4:p.Thr778Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2332A>G
  hgvsp: ENSP00000300278.2:p.Thr778Ala
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr778Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

21-34923878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923878
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923878
    reference: chr 21
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2341A>G
  hgvsp: ENSP00000300278.2:p.Met781Val
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2341A>G
  hgvsp: ENSP00000290239.5:p.Met781Val
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2341A>G
  hgvsp: ENSP00000371095.4:p.Met781Val
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2341A>G
  hgvsp: ENSP00000399783.1:p.Met781Val
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5193A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2341A>G
  hgvsp: ENSP00000348984.4:p.Met781Val
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met781Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-34923889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923889
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923889
    reference: chr 21
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2352G>A
  hgvsp: ENST00000455528.1:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2352G>A
  hgvsp: ENST00000356577.4:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2352G>A
  hgvsp: ENST00000290239.6:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2352G>A
  hgvsp: ENST00000300278.4:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2352G>A
  hgvsp: ENST00000381679.4:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5204G>A
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln784Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

21-34923899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34923899
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34923899
    reference: chr 21
allele count: 6
allele frequency: 4.943072284193702e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000399783
  ensembl transcript: ENST00000455528
  gene symbol: SON
  hgvsc: ENST00000455528.1:c.2362A>G
  hgvsp: ENSP00000399783.1:p.Thr788Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371111
  ensembl transcript: ENST00000381692
  gene symbol: SON
  hgvsc: ENST00000381692.2:c.244+5214A>G
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000300278
  ensembl transcript: ENST00000300278
  gene symbol: SON
  hgvsc: ENST00000300278.4:c.2362A>G
  hgvsp: ENSP00000300278.2:p.Thr788Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000348984
  ensembl transcript: ENST00000356577
  gene symbol: SON
  hgvsc: ENST00000356577.4:c.2362A>G
  hgvsp: ENSP00000348984.4:p.Thr788Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000290239
  ensembl transcript: ENST00000290239
  gene symbol: SON
  hgvsc: ENST00000290239.6:c.2362A>G
  hgvsp: ENSP00000290239.5:p.Thr788Ala
  variant of: http://identifiers.org/hgnc/11183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159140
  ensembl protein: ENSP00000371095
  ensembl transcript: ENST00000381679
  gene symbol: SON
  hgvsc: ENST00000381679.4:c.2362A>G
  hgvsp: ENSP00000371095.4:p.Thr788Ala
  variant of: http://identifiers.org/hgnc/11183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr788Ala
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34278
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2917
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62950
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: 16416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.775008775008775e-5
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.186239620403321e-4
allele num: 8430
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.419e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.458e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 2.359992e6

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

GenotypeQuality
all individuals: 3230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34291
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.127141568981064e-4
allele num: 8872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.362809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.053e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.98e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 2052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2955
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58654608916389e-5
allele num: 63030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.365987e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e0

GenotypeQuality
all individuals: 1573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583531274742676e-5
allele num: 63150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

FS
type: SiteQuality
SIO_000300: 6.205e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 2.376171e6

VQSLOD
type: SiteQuality
SIO_000300: -3.523e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34352
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580727767063956e-5
allele num: 63262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.382751e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 6.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.741e0

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.737091425864519e-4
allele num: 8444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 2.384158e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 4.859e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
all individuals: 2824
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 361
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2050
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34866
bin: 9.75e1
variant carriers: 1210

Latino
type: Population
allele count: 20
allele frequency: 1.751927119831815e-3
allele num: 11416
num of homozygotes: 2

Other
type: Population
allele count: 9
allele frequency: 1.063829787234043e-2
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 122
allele frequency: 7.422730591384765e-3
allele num: 16436
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 934
allele frequency: 1.476073076679942e-2
allele num: 63276
num of homozygotes: 6

African
type: Population
allele count: 39
allele frequency: 4.346856888096299e-3
allele num: 8972
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 97
allele frequency: 1.492307692307692e-2
allele num: 6500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.352e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

FS
type: SiteQuality
SIO_000300: 1.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 2.406936e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.114578689255461e-4
allele num: 8972
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.258425599221317e-4
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579329732461543e-5
allele num: 63318
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.771e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

DP
type: SiteQuality
SIO_000300: 2.403596e6

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577983967682888e-5
allele num: 63372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

VQSLOD
type: SiteQuality
SIO_000300: -2.595e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 3.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 2.404604e6

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 5517
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variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 2.404911e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

QD
type: SiteQuality
SIO_000300: 1.152e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.465812640015145e-5
allele num: 63386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.407504e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.911e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.719207173194903e-4
allele num: 8476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 1.1492e1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.409639e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 2.25e1
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GenotypeQuality
all individuals: 3437
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57410905427528e-5
allele num: 63528
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.409639e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

FS
type: SiteQuality
SIO_000300: 1.1492e1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.377e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 34559
bin: 9.75e1
variant carriers: 10

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

South Asian
type: Population
allele count: 6
allele frequency: 3.646973012399708e-4
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.715350036151017e-5
allele num: 63622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 2.411309e6

FS
type: SiteQuality
SIO_000300: 1.488e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 3017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5759
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34572
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 30
allele frequency: 3.53356890459364e-3
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 1.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

DP
type: SiteQuality
SIO_000300: 2.415386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.707802397840688e-5
allele num: 63724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 1.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 2.415386e6

GenotypeQuality
all individuals: 3299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34567
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

FS
type: SiteQuality
SIO_000300: 3.145e0

VQSLOD
type: SiteQuality
SIO_000300: -1.749e0

QD
type: SiteQuality
SIO_000300: 2.083e1

DP
type: SiteQuality
SIO_000300: 2.4158e6

GenotypeQuality
all individuals: 34568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567348985925206e-5
allele num: 63802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.416831e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.239e-1

QD
type: SiteQuality
SIO_000300: 7.27e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

FS
type: SiteQuality
SIO_000300: 2.725e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

GenotypeQuality
all individuals: 2972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34568
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567348985925206e-5
allele num: 63802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

QD
type: SiteQuality
SIO_000300: 7.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e0

FS
type: SiteQuality
SIO_000300: 2.725e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.239e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

DP
type: SiteQuality
SIO_000300: 2.416831e6

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.352387673488591e-4
allele num: 8502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.698512137823023e-5
allele num: 63850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 2.41828e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.158428663932657e-4
allele num: 9266
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.747211013529552e-4
allele num: 8426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7603
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47069
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

DP
type: SiteQuality
SIO_000300: 2.65505e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 1.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9265
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 595
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46999
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7477
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.779e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 9.066000000000001e0

DP
type: SiteQuality
SIO_000300: 2.651676e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.715e0

MQ
type: SiteQuality
SIO_000300: 6.009e1

VQSLOD
type: SiteQuality
SIO_000300: -4.883e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

QD
type: SiteQuality
SIO_000300: 2.369e1

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.375579047392802e-4
allele num: 8419
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6593
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7289
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.401317921572864e-4
allele num: 9257
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 73
allele frequency: 1.555243086624909e-3
allele num: 46938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

QD
type: SiteQuality
SIO_000300: 1.81e1

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.858e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.649509e6

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 2195
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8415
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46873
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9257
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.395868230039084e-4
allele num: 7164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 1.741e0

QD
type: SiteQuality
SIO_000300: 1.077e1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.64432e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.165e0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6951
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6591
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.080730573867935e-4
allele num: 9253
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 3.234e1

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 2.637138e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.141144227475163e-5
allele num: 46704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6829
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.633261e6

QD
type: SiteQuality
SIO_000300: 3.297e1

VQSLOD
type: SiteQuality
SIO_000300: -3.504e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 4.451395572666025e-3
allele num: 8312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.746e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

QD
type: SiteQuality
SIO_000300: 1.791e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 2.632376e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.156659765355418e-5
allele num: 46368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6519
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6571
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.047e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.38e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 2.634098e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46738
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6687
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6603
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 571
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Latino
type: Population
allele count: 2
allele frequency: 2.15610176800345e-4
allele num: 9276
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FS
type: SiteQuality
SIO_000300: 1.424e0

QD
type: SiteQuality
SIO_000300: 2.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.262e0

MQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

DP
type: SiteQuality
SIO_000300: 2.384102e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.877e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9279
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 577
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.135839384878257e-5
allele num: 46820
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

DP
type: SiteQuality
SIO_000300: 2.393861e6

VQSLOD
type: SiteQuality
SIO_000300: -4.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.507e0

QD
type: SiteQuality
SIO_000300: 2.996e1

FS
type: SiteQuality
SIO_000300: 4.039e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

Latino
type: Population
allele count: 1
allele frequency: 1.077586206896552e-4
allele num: 9280
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 577
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6852
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: -2.79e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

DP
type: SiteQuality
SIO_000300: 2.395556e6

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46870
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6613
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8450
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6924
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 2.398695e6

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7082
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.077005923532579e-4
allele num: 9285
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46933
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.385e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

FS
type: SiteQuality
SIO_000300: 2.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.404841e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

South Asian
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allele count: 10
allele frequency: 1.402131239484016e-3
allele num: 7132
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.076889941847943e-4
allele num: 9286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46964
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.051e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 1.2435e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

DP
type: SiteQuality
SIO_000300: 2.406342e6

QD
type: SiteQuality
SIO_000300: 2.94e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7455
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8471
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 3.147e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 2.41485e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.121655740139605e-5
allele num: 47133
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 597
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 1.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.416974e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.956e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8481
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9301
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8041
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: 47355
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.508068164681044e-4
allele num: 6631
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 2.426588e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 1.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.783e1

VQSLOD
type: SiteQuality
SIO_000300: -6.981000000000001e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8487
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.508068164681044e-4
allele num: 6631
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.828e0

DP
type: SiteQuality
SIO_000300: 2.431125e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9211
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.096787721211105e-5
allele num: 47692
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.18e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.812e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.452798e6

QD
type: SiteQuality
SIO_000300: 2.602e1

Latino
type: Population
allele count: 1
allele frequency: 1.073537305421363e-4
allele num: 9315
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.093714668564968e-5
allele num: 47762
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.662e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 2.459192e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

Latino
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allele count: 1
allele frequency: 1.073537305421363e-4
allele num: 9315
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.296e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 4.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 2.470377e6

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

Other
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allele num: 908
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MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.691204e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.077e-1

FS
type: SiteQuality
SIO_000300: 1.109e0

MQ
type: SiteQuality
SIO_000300: 5.758e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
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QD
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East Asian
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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Other
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allele num: 627
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 8.588298443370907e-4
allele num: 9315
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.63e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

DP
type: SiteQuality
SIO_000300: 2.471092e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.389e1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
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: 47899
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 2.471729e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.065e0

FS
type: SiteQuality
SIO_000300: 6.538e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.041e1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47889
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.010305112143867e-4
allele num: 9898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.471106e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.42e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47878
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 5.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.241e0

QD
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -3.283e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 2.468935e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8505
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.496e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.450796e6

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.428e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

QD
type: SiteQuality
SIO_000300: 4.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099825714465699e-5
allele num: 47623
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9301
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.837e0

DP
type: SiteQuality
SIO_000300: 2.44004e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.153535586572846e-4
allele num: 8669
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.269e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

DP
type: SiteQuality
SIO_000300: 2.427125e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7983
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8475
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.351357073294661e-5
allele num: 47234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.265e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

DP
type: SiteQuality
SIO_000300: 2.404906e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47063
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 591
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.544423440453686e-4
allele num: 8464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.071e1

DP
type: SiteQuality
SIO_000300: 2.387085e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.741e0

FS
type: SiteQuality
SIO_000300: 1.278e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

GenotypeQuality
all individuals: 2367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8851
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 8.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.691739e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

FS
type: SiteQuality
SIO_000300: 8.991e0

DP
type: SiteQuality
SIO_000300: 1.691739e6

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.177e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.038e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

Latino
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

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

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 8.004e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e0

DP
type: SiteQuality
SIO_000300: 1.692021e6

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
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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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.692055e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.476e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 1.691964e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

GenotypeQuality
all individuals: 8800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 276

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1034
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 67
allele frequency: 1.013002721499849e-2
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

European (Non-Finnish)
type: Population
allele count: 200
allele frequency: 2.997512064986062e-3
allele num: 66722
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 1.741914e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

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

GenotypeQuality
all individuals: 4192
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.698978e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.272e0

GenotypeQuality
all individuals: 8814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.699356e6

VQSLOD
type: SiteQuality
SIO_000300: -3.802e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.175e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 1.573e1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.435e1

MQ
type: SiteQuality
SIO_000300: 5.888e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 1.699233e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.476e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

FS
type: SiteQuality
SIO_000300: 2.463e0

QD
type: SiteQuality
SIO_000300: 1.466e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.699249e6

MQ
type: SiteQuality
SIO_000300: 5.887e1

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

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.795e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

DP
type: SiteQuality
SIO_000300: 1.699404e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.59e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 8812
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 4200
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variant carriers: 2

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.399e0

DP
type: SiteQuality
SIO_000300: 1.699853e6

MQ
type: SiteQuality
SIO_000300: 5.887e1

FS
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.572e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
all individuals: 0
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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
all individuals: 2
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GenotypeQuality
all individuals: 1043
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 9.75e1
variant carriers: 7

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495352881213648e-5
allele num: 66708
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.838e0

MQ
type: SiteQuality
SIO_000300: 5.809e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.702842e6

VQSLOD
type: SiteQuality
SIO_000300: -1.234e0

QD
type: SiteQuality
SIO_000300: 6.7e0

GenotypeQuality
all individuals: 4203
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
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: -1.463e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

FS
type: SiteQuality
SIO_000300: 2.063e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

DP
type: SiteQuality
SIO_000300: 1.703399e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1051
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 9.75e1
variant carriers: 7

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495352881213648e-5
allele num: 66708
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 2.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.813e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.463e0

QD
type: SiteQuality
SIO_000300: 5.61e0

DP
type: SiteQuality
SIO_000300: 1.703399e6

GenotypeQuality
all individuals: 1044
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4202
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 8811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 9.25e1
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: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495577609210566e-5
allele num: 66706
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: 3.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.702537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 5.899e0

VQSLOD
type: SiteQuality
SIO_000300: -1.927e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.989e0

GenotypeQuality
all individuals: 35668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 3.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.085e-1

QD
type: SiteQuality
SIO_000300: 2.59e0

MQ
type: SiteQuality
SIO_000300: 5.276e1

DP
type: SiteQuality
SIO_000300: 1.699199e6

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4216
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1044
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8814
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 4.016e0

VQSLOD
type: SiteQuality
SIO_000300: -1.776e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 6.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.699424e6

MQ
type: SiteQuality
SIO_000300: 5.796e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e0

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.572e0

FS
type: SiteQuality
SIO_000300: 1.263e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.71e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e0

VQSLOD
type: SiteQuality
SIO_000300: -3.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

DP
type: SiteQuality
SIO_000300: 1.699488e6

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.813e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

DP
type: SiteQuality
SIO_000300: 1.699676e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.125e0

GenotypeQuality
all individuals: 3840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 16510
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

VQSLOD
type: SiteQuality
SIO_000300: -6.117e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

FS
type: SiteQuality
SIO_000300: 2.755e0

QD
type: SiteQuality
SIO_000300: 1.256e1

DP
type: SiteQuality
SIO_000300: 1.699922e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.747e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1