http://identifiers.org/exac.variant/3-12785492-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785492
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 113984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1486G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-4G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-4G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-4G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1486G>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.75e1
  variant carriers: 0
hgvs: c.212-4G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-12785492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785492
    reference: chr 3
allele count: 1
allele frequency: 8.77316114542392e-6
allele num: 113984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-4G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-4G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1486G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-4G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1486G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
hgvs: c.212-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-12785493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785493
    reference: chr 3
allele count: 6
allele frequency: 5.274539796402764e-5
allele num: 113754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-5C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-5C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1487C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-5C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1487C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 18492
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
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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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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: 4334
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 543
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
hgvs: c.212-5C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-12785493-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785493
    reference: chr 3
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1487C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1487C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-5C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-5C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-5C>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7736
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34090
  bin: 6.25e1
  variant carriers: 0
hgvs: c.212-5C>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-12785494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785494
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785494
    reference: chr 3
allele count: 1
allele frequency: 8.800028160090112e-6
allele num: 113636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-6C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-6C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-6C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1488C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1488C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.75e1
  variant carriers: 0
hgvs: c.212-6C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-12785495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785495
    reference: chr 3
allele count: 341
allele frequency: 3.008168810317754e-3
allele num: 113358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-7C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-7C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-7C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1489C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1489C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 19616
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.75e1
  variant carriers: 0
hgvs: c.212-7C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-12785500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785500
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785500
    reference: chr 3
allele count: 1
allele frequency: 8.920447449644074e-6
allele num: 112102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1494T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-12T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1494T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-12T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-12T>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-12785507-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785507
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785507
    reference: chr 3
allele count: 1
allele frequency: 9.082157193976713e-6
allele num: 110106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1501T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-19T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-19T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1501T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-19T>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-12785508-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785508
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785508
    reference: chr 3
allele count: 1
allele frequency: 9.08909127265456e-6
allele num: 110022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-20C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1502C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-20C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-20C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1502C>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

3-12785510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785510
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785510
    reference: chr 3
allele count: 1
allele frequency: 9.127418765972983e-6
allele num: 109560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1504A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-22A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1504A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-22A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-22A>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

3-12785515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785515
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785515
    reference: chr 3
allele count: 2
allele frequency: 1.848428835489834e-5
allele num: 108200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1509C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-27C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-27C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-27C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1509C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-12785517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785517
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785517
    reference: chr 3
allele count: 1
allele frequency: 9.267840593141798e-6
allele num: 107900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-29C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-29C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1511C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-29C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1511C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-12785518-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785518
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785518
    reference: chr 3
allele count: 9
allele frequency: 8.337965536409116e-5
allele num: 107940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-30T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-30T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1512T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-30T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1512T>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20281
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-12785520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785520
    reference: chr 3
allele count: 850
allele frequency: 7.960739505872215e-3
allele num: 106774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-32C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1514C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-32C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-32C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1514C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 1.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 20628
  bin: 1.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14925
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11292
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7867
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 9.75e1
  variant carriers: 794
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.75e1
  variant carriers: 2
num of homozygotes: 20
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

3-12785520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785520
    reference: chr 3
allele count: 367
allele frequency: 3.437166351358945e-3
allele num: 106774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-32C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1514C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-32C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-32C>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1514C>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 1.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20628
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 9.75e1
  variant carriers: 363
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11292
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-12785523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785523
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785523
    reference: chr 3
allele count: 1499
allele frequency: 1.422012256436526e-2
allele num: 105414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1517G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-35G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-35G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-35G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1517G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 2.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 2.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 1.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 1.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8423
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 8894
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 14731
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 9.75e1
  variant carriers: 1333
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 3.75e1
  variant carriers: 7
num of homozygotes: 95
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

3-12785529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785529
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785529
    reference: chr 3
allele count: 1
allele frequency: 9.795470574406395e-6
allele num: 102088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1523C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1523C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-41C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-41C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-41C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

3-12785530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785530
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785530
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 102224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1524C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-42C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1524C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-42C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-42C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-12785540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12785540
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12785540
    reference: chr 3
allele count: 1
allele frequency: 1.030248083738564e-5
allele num: 97064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.212-1534C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.212-52C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.260-52C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.212-52C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.74-1534C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

3-12790103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790103
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790103
    reference: chr 3
allele count: 1
allele frequency: 8.625299729165588e-6
allele num: 115938
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+51T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+51T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1156T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+51T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+51T>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21591
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 782
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48852
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-12790104-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790104
    reference: chr 3
allele count: 1
allele frequency: 8.628872206402623e-6
allele num: 115890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+50A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+50A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+50A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+50A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1155A>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/3-12790108-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790108
    reference: chr 3
allele count: 76
allele frequency: 6.555114714507504e-4
allele num: 115940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+46T>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+46T>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+46T>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1151T>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+46T>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48877
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-12790119-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790119
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790119
    reference: chr 3
allele count: 1
allele frequency: 8.6229197206174e-6
allele num: 115970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1140A>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+35A>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+35A>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+35A>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+35A>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-12790126-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790126
    reference: chr 3
allele count: 1
allele frequency: 8.591065292096219e-6
allele num: 116400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+28A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+28A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+28A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+28A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1133A>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48839
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

3-12790130-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790130
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790130
    reference: chr 3
allele count: 1
allele frequency: 8.562963470397836e-6
allele num: 116782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+24G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+24G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+24G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1129G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+24G>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

3-12790131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790131
    reference: chr 3
allele count: 1
allele frequency: 8.534025158306167e-6
allele num: 117178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+23T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+23T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+23T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1128T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+23T>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21569
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-12790144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790144
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790144
    reference: chr 3
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+10A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+10A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+10A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+10A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1115A>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-12790148-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790148
    reference: chr 3
allele count: 18
allele frequency: 1.501100807258656e-4
allele num: 119912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+6G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+6G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+6G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+6G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1111G>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
hgvs: c.211+6G>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

3-12790148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790148
    reference: chr 3
allele count: 23
allele frequency: 1.918073253719394e-4
allele num: 119912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+6G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1111G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+6G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+6G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+6G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48847
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
hgvs: c.211+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-12790151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790151
    reference: chr 3
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1108A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+3A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+3A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+3A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+3A>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: c.211+3A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-12790153-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790153
    reference: chr 3
allele count: 2
allele frequency: 1.661019201381968e-5
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211+1G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259+1G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1106G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211+1G>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211+1G>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48840
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
hgvs: c.211+1G>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-12790154-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790154
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790154
    reference: chr 3
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.211G>C
  hgvsp: ENSP00000405740.2:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.211G>C
  hgvsp: ENSP00000264728.8:p.Glu71Gln
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.259G>C
  hgvsp: ENSP00000407396.2:p.Glu87Gln
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1105G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.211G>C
  hgvsp: ENSP00000322837.7:p.Glu71Gln
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21596
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu71Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-12790155-T-TGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790158
    reference: chr 3
allele count: 2
allele frequency: 1.660577881102624e-5
allele num: 120440
alternate allele: TGAG
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.207_209dupCTC
  hgvsp: ENSP00000322837.7:p.Ser70dup
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.255_257dupCTC
  hgvsp: ENSP00000407396.2:p.Ser86dup
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.207_209dupCTC
  hgvsp: ENSP00000405740.2:p.Ser70dup
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1101_73+1103dupCTC
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.207_209dupCTC
  hgvsp: ENSP00000264728.8:p.Ser70dup
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48821
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser70dup
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-12790155-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790152
    reference: chr 3
allele count: 6
allele frequency: 4.981733643307871e-5
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.207_209delCTC
  hgvsp: ENSP00000405740.2:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.255_257delCTC
  hgvsp: ENSP00000407396.2:p.Ser86del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.207_209delCTC
  hgvsp: ENSP00000322837.7:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.207_209delCTC
  hgvsp: ENSP00000264728.8:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1101_73+1103delCTC
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser70del
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TGAG
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-12790167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790167
    reference: chr 3
allele count: 6
allele frequency: 4.949596607876458e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1092C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.198C>T
  hgvsp: ENST00000314124.7:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.246C>T
  hgvsp: ENST00000431022.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.198C>T
  hgvsp: ENST00000435218.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.198C>T
  hgvsp: ENST00000264728.8:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21609
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser66Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

3-12790167-GGAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790164
    reference: chr 3
allele count: 10
allele frequency: 8.249327679794097e-5
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1089_73+1091delATC
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.243_245delATC
  hgvsp: ENSP00000407396.2:p.Ser86del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.195_197delATC
  hgvsp: ENSP00000264728.8:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.195_197delATC
  hgvsp: ENSP00000405740.2:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.195_197delATC
  hgvsp: ENSP00000322837.7:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21609
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48901
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Ser70del
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: GGAT
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-12790170-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790170
    reference: chr 3
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.243A>C
  hgvsp: ENST00000431022.2:c.243A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.195A>C
  hgvsp: ENST00000435218.2:c.195A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1089A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.195A>C
  hgvsp: ENST00000264728.8:c.195A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.195A>C
  hgvsp: ENST00000314124.7:c.195A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7757
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser65Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-12790173-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790173
    reference: chr 3
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.192T>A
  hgvsp: ENST00000314124.7:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.192T>A
  hgvsp: ENST00000264728.8:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.240T>A
  hgvsp: ENST00000431022.2:c.240T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.192T>A
  hgvsp: ENST00000435218.2:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1086T>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 48904
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 461
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser64Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

3-12790174-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790174
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790174
    reference: chr 3
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.239C>A
  hgvsp: ENSP00000407396.2:p.Ser80Tyr
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1085C>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.191C>A
  hgvsp: ENSP00000405740.2:p.Ser64Tyr
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.191C>A
  hgvsp: ENSP00000264728.8:p.Ser64Tyr
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.191C>A
  hgvsp: ENSP00000322837.7:p.Ser64Tyr
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48912
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 534
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser64Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-12790181-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790180
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.183delC
  hgvsp: ENSP00000405740.2:p.Ser62HisfsTer19
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.183delC
  hgvsp: ENSP00000322837.7:p.Ser62HisfsTer49
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.231delC
  hgvsp: ENSP00000407396.2:p.Ser78HisfsTer49
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1077delC
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.183delC
  hgvsp: ENSP00000264728.8:p.Ser62HisfsTer49
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
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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: 3309
  bin: 8.75e1
  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
  all individuals: 3140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48904
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser62HisfsTer49
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AG
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

3-12790188-TGAGGAGGAAGAGGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790173
    reference: chr 3
allele count: 4
allele frequency: 3.29733740004946e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsp: ENSP00000264728.8:p.Ser66_Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsp: ENSP00000405740.2:p.Ser66_Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsp: ENSP00000322837.7:p.Ser66_Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsp: ENSP00000407396.2:p.Ser82_Ser86del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser66_Ser70del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: TGAGGAGGAAGAGGAG
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

3-12790188-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790188
    reference: chr 3
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1071A>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.177A>C
  hgvsp: ENST00000314124.7:c.177A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.177A>C
  hgvsp: ENST00000264728.8:c.177A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.225A>C
  hgvsp: ENST00000431022.2:c.225A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.177A>C
  hgvsp: ENST00000435218.2:c.177A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser59Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-12790192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790192
    reference: chr 3
allele count: 494
allele frequency: 4.07120487885281e-3
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1067C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.173C>T
  hgvsp: ENSP00000264728.8:p.Ser58Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.173C>T
  hgvsp: ENSP00000405740.2:p.Ser58Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.221C>T
  hgvsp: ENSP00000407396.2:p.Ser74Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.173C>T
  hgvsp: ENSP00000322837.7:p.Ser58Phe
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21851
  bin: 9.75e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
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: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser58Phe
num of homozygotes: 10
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-12790197-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790194
    reference: chr 3
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.213_215delCTC
  hgvsp: ENSP00000407396.2:p.Ser86del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.165_167delCTC
  hgvsp: ENSP00000322837.7:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.165_167delCTC
  hgvsp: ENSP00000405740.2:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1059_73+1061delCTC
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.165_167delCTC
  hgvsp: ENSP00000264728.8:p.Ser70del
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48976
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ser70del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: AGAG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

3-12790197-AGAGGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790191
    reference: chr 3
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.162_167delCTCCTC
  hgvsp: ENSP00000405740.2:p.Ser69_Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.162_167delCTCCTC
  hgvsp: ENSP00000322837.7:p.Ser69_Ser70del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.210_215delCTCCTC
  hgvsp: ENSP00000407396.2:p.Ser85_Ser86del
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.162_167delCTCCTC
  hgvsp: ENSP00000264728.8:p.Ser69_Ser70del
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48976
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser69_Ser70del
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: AGAGGAG
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-12790201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790201
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790201
    reference: chr 3
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.164C>T
  hgvsp: ENSP00000322837.7:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1058C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.212C>T
  hgvsp: ENSP00000407396.2:p.Ser71Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.164C>T
  hgvsp: ENSP00000405740.2:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.164C>T
  hgvsp: ENSP00000264728.8:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser55Phe
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-12790203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790203
    reference: chr 3
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1056C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.210C>T
  hgvsp: ENST00000431022.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.162C>T
  hgvsp: ENST00000264728.8:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.162C>T
  hgvsp: ENST00000435218.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.162C>T
  hgvsp: ENST00000314124.7:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21687
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48977
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser54Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-12790204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790204
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790204
    reference: chr 3
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.161C>T
  hgvsp: ENSP00000264728.8:p.Ser54Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.209C>T
  hgvsp: ENSP00000407396.2:p.Ser70Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.161C>T
  hgvsp: ENSP00000322837.7:p.Ser54Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.161C>T
  hgvsp: ENSP00000405740.2:p.Ser54Phe
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1055C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48972
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser54Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-12790206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790206
    reference: chr 3
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.159C>T
  hgvsp: ENST00000435218.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.159C>T
  hgvsp: ENST00000264728.8:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.159C>T
  hgvsp: ENST00000314124.7:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.207C>T
  hgvsp: ENST00000431022.2:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1053C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser53Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-12790213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790213
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790213
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.152C>G
  hgvsp: ENSP00000322837.7:p.Ser51Cys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.152C>G
  hgvsp: ENSP00000264728.8:p.Ser51Cys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.200C>G
  hgvsp: ENSP00000407396.2:p.Ser67Cys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.152C>G
  hgvsp: ENSP00000405740.2:p.Ser51Cys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1046C>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7997
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser51Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-12790218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790218
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790218
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.147G>A
  hgvsp: ENST00000264728.8:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.147G>A
  hgvsp: ENST00000435218.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.147G>A
  hgvsp: ENST00000314124.7:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.195G>A
  hgvsp: ENST00000431022.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1041G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48975
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys49Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

3-12790222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790222
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790222
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1037A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.143A>G
  hgvsp: ENSP00000264728.8:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.143A>G
  hgvsp: ENSP00000405740.2:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.143A>G
  hgvsp: ENSP00000322837.7:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.191A>G
  hgvsp: ENSP00000407396.2:p.Asn64Ser
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  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: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn48Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

3-12790227-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790227
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790227
    reference: chr 3
allele count: 8
allele frequency: 6.591957811470006e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.186G>C
  hgvsp: ENSP00000407396.2:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1032G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.138G>C
  hgvsp: ENSP00000322837.7:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.138G>C
  hgvsp: ENSP00000264728.8:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.138G>C
  hgvsp: ENSP00000405740.2:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 48977
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu46Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

3-12790228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790228
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.137A>G
  hgvsp: ENSP00000405740.2:p.Glu46Gly
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1031A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.137A>G
  hgvsp: ENSP00000264728.8:p.Glu46Gly
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.137A>G
  hgvsp: ENSP00000322837.7:p.Glu46Gly
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.185A>G
  hgvsp: ENSP00000407396.2:p.Glu62Gly
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu46Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-12790229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790229
    reference: chr 3
allele count: 12
allele frequency: 9.888099672044694e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.184G>A
  hgvsp: ENSP00000407396.2:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.136G>A
  hgvsp: ENSP00000405740.2:p.Glu46Lys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1030G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.136G>A
  hgvsp: ENSP00000264728.8:p.Glu46Lys
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.136G>A
  hgvsp: ENSP00000322837.7:p.Glu46Lys
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21691
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu46Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-12790235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790235
    reference: chr 3
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.130C>T
  hgvsp: ENSP00000405740.2:p.Gln44Ter
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.130C>T
  hgvsp: ENSP00000322837.7:p.Gln44Ter
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.178C>T
  hgvsp: ENSP00000407396.2:p.Gln60Ter
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+1024C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.130C>T
  hgvsp: ENSP00000264728.8:p.Gln44Ter
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln44Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

3-12790262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790262
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790262
    reference: chr 3
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+997G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.151G>A
  hgvsp: ENSP00000407396.2:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.103G>A
  hgvsp: ENSP00000322837.7:p.Gly35Arg
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.103G>A
  hgvsp: ENSP00000405740.2:p.Gly35Arg
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.103G>A
  hgvsp: ENSP00000264728.8:p.Gly35Arg
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21690
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly35Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-12790266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790266
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790266
    reference: chr 3
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.99A>G
  hgvsp: ENST00000435218.2:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.147A>G
  hgvsp: ENST00000431022.2:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+993A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.99A>G
  hgvsp: ENST00000264728.8:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.99A>G
  hgvsp: ENST00000314124.7:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21690
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln33Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-12790275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790275
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790275
    reference: chr 3
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.90C>T
  hgvsp: ENST00000264728.8:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.138C>T
  hgvsp: ENST00000431022.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.90C>T
  hgvsp: ENST00000314124.7:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.90C>T
  hgvsp: ENST00000435218.2:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+984C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe30Phe
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-12790275-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790275
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790275
    reference: chr 3
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.138C>G
  hgvsp: ENSP00000407396.2:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.90C>G
  hgvsp: ENSP00000264728.8:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.90C>G
  hgvsp: ENSP00000322837.7:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.90C>G
  hgvsp: ENSP00000405740.2:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+984C>G
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48976
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe30Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

3-12790277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790277
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790277
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.88T>C
  hgvsp: ENSP00000405740.2:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.136T>C
  hgvsp: ENSP00000407396.2:p.Phe46Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.88T>C
  hgvsp: ENSP00000322837.7:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+982T>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.88T>C
  hgvsp: ENSP00000264728.8:p.Phe30Leu
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe30Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-12790279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790279
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790279
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.86A>T
  hgvsp: ENSP00000405740.2:p.Asp29Val
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.86A>T
  hgvsp: ENSP00000322837.7:p.Asp29Val
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+980A>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.86A>T
  hgvsp: ENSP00000264728.8:p.Asp29Val
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.134A>T
  hgvsp: ENSP00000407396.2:p.Asp45Val
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp29Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-12790279-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790279
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790279
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.86A>G
  hgvsp: ENSP00000322837.7:p.Asp29Gly
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.86A>G
  hgvsp: ENSP00000405740.2:p.Asp29Gly
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.86A>G
  hgvsp: ENSP00000264728.8:p.Asp29Gly
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+980A>G
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.134A>G
  hgvsp: ENSP00000407396.2:p.Asp45Gly
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp29Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-12790292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790292
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790292
    reference: chr 3
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-1G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-1G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-1G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-1G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+967G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
hgvs: c.74-1G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-12790299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790299
    reference: chr 3
allele count: 2
allele frequency: 1.65812731101494e-5
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-8C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-8C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+960C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-8C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-8C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21693
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48977
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: c.74-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-12790309-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790309
    reference: chr 3
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-18C>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-18C>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-18C>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-18C>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+950C>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-12790314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790314
    reference: chr 3
allele count: 30
allele frequency: 2.499458450669021e-4
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+945C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-23C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-23C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-23C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-23C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21713
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-12790321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790321
    reference: chr 3
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-30C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-30C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+938C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-30C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-30C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-12790322-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790322
    reference: chr 3
allele count: 2
allele frequency: 1.674004385891491e-5
allele num: 119474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-31G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-31G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-31G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+937G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-31G>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-12790323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790323
    reference: chr 3
allele count: 2
allele frequency: 1.674368762976358e-5
allele num: 119448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-32C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-32C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+936C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-32C>T
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-32C>T
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21695
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

3-12790332-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12790332
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12790332
    reference: chr 3
allele count: 813
allele frequency: 6.863192017423897e-3
allele num: 118458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.74-41G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.74-41G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.74-41G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+927G>C
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.122-41G>C
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22004
  bin: 9.75e1
  variant carriers: 734
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49041
  bin: 9.75e1
  variant carriers: 808
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-12791209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12791209
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12791209
    reference: chr 3
allele count: 4
allele frequency: 3.310710147326601e-5
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.73+50G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.73+50G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+50G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.121+50G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.73+50G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

3-12791212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12791212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12791212
    reference: chr 3
allele count: 409
allele frequency: 3.383856769368236e-3
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.73+47G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.121+47G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.73+47G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.73+47G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+47G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 21082
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 7
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

3-12791215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12791215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 12791215
    reference: chr 3
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000322837
  ensembl transcript: ENST00000314124
  gene symbol: TMEM40
  hgvsc: ENST00000314124.7:c.73+44G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000407396
  ensembl transcript: ENST00000431022
  gene symbol: TMEM40
  hgvsc: ENST00000431022.2:c.121+44G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000264728
  ensembl transcript: ENST00000264728
  gene symbol: TMEM40
  hgvsc: ENST00000264728.8:c.73+44G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000405740
  ensembl transcript: ENST00000435218
  gene symbol: TMEM40
  hgvsc: ENST00000435218.2:c.73+44G>A
  variant of: http://identifiers.org/hgnc/25620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088726
  ensembl protein: ENSP00000396895
  ensembl transcript: ENST00000435575
  gene symbol: TMEM40
  hgvsc: ENST00000435575.1:c.73+44G>A
  variant of: http://identifiers.org/hgnc/25620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1035
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4417
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 1.581912e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1035
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.434178355424013e-5
allele num: 15542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.581912e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34090
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4566
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 2
allele frequency: 2.052123948286476e-4
allele num: 9746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.429214350006429e-5
allele num: 15554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.79570305006714e-5
allele num: 62556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.574312e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 7.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.205400192864031e-4
allele num: 8296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.574312e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

FS
type: SiteQuality
SIO_000300: 7.227e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

GenotypeQuality
all individuals: 4286
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 486
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599897606553181e-5
allele num: 62504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

QD
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 3.497e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.566749e6

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 929
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4854
bin: 9.75e1
variant carriers: 336

Latino
type: Population
allele count: 29
allele frequency: 2.758751902587519e-3
allele num: 10512
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.169031462060457e-4
allele num: 9726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 29
allele frequency: 4.713914174252275e-3
allele num: 6152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 276
allele frequency: 4.427902201116602e-3
allele num: 62332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.190476190476191e-3
allele num: 840
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.561322e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.232e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

FS
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.724e0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.033698573495969e-4
allele num: 9674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.510354e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

FS
type: SiteQuality
SIO_000300: 6.392e0

VQSLOD
type: SiteQuality
SIO_000300: -4.054e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.967e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 9.75e1
variant carriers: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655300271469245e-5
allele num: 60412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.502e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.413654e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4538
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.56254101588135e-5
allele num: 15238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 1.412878e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.349e0

GenotypeQuality
all individuals: 4538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 473
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.582411795681937e-5
allele num: 15192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.379439e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.758e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15056
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.373932993690746e-5
allele num: 59278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

QD
type: SiteQuality
SIO_000300: 1.002e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.944e0

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.309125e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 1228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.05977108944468e-4
allele num: 9436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15024
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.299774e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 1.118e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15194
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.983246908655763e-4
allele num: 15042
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.291746e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 2.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

GenotypeQuality
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2214
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 424
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 579
bin: 5.25e1
variant carriers: 2

South Asian
type: Population
allele count: 142
allele frequency: 9.503413197697765e-3
allele num: 14942
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 1.368035842539075e-3
allele num: 58478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 58
allele frequency: 9.989665862900447e-3
allele num: 5806
num of homozygotes: 0

African
type: Population
allele count: 525
allele frequency: 5.61617458279846e-2
allele num: 9348
num of homozygotes: 17

Latino
type: Population
allele count: 34
allele frequency: 3.53356890459364e-3
allele num: 9622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.364764267990074e-2
allele num: 806
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 1.271005e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

GenotypeQuality
all individuals: 1541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7867
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 25
allele frequency: 4.305890458146745e-3
allele num: 5806
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 9.353564747453752e-4
allele num: 9622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 228
allele frequency: 3.898902151236363e-3
allele num: 58478
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.481389578163772e-3
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.348737697903295e-4
allele num: 9348
num of homozygotes: 0

South Asian
type: Population
allele count: 98
allele frequency: 6.558693615312542e-3
allele num: 14942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.271005e6

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

GenotypeQuality
all individuals: 5918
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 993
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1597
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 17

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.501540912081443e-4
allele num: 57758
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.473314241083051e-3
allele num: 7682
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.417118093174431e-4
allele num: 14768
num of homozygotes: 0

African
type: Population
allele count: 1376
allele frequency: 1.492084146605942e-1
allele num: 9222
num of homozygotes: 95

Other
type: Population
allele count: 3
allele frequency: 3.768844221105527e-3
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 66
allele frequency: 6.973795435333897e-3
allele num: 9464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.747030048916841e-4
allele num: 5724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.247783e6

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.7892928714572e-5
allele num: 55888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

VQSLOD
type: SiteQuality
SIO_000300: -3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.203694e6

FS
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 4520
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
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variant carriers: 1

GenotypeQuality
all individuals: 8799
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variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 4.26e0

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.202236e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4783
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4519
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52952
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.133685261806249e-5
allele num: 14018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.177e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -1.526e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.186813e6

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1133
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variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.699718611818304e-5
allele num: 14926
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

DP
type: SiteQuality
SIO_000300: 4.849804e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
all individuals: 48850
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
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variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

FS
type: SiteQuality
SIO_000300: 3.004e0

QD
type: SiteQuality
SIO_000300: 2.658e1

DP
type: SiteQuality
SIO_000300: 4.849811e6

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.674e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 1757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 686
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.238344683080147e-4
allele num: 11454
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.162790697674419e-3
allele num: 860
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.340842048806651e-4
allele num: 14916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 67
allele frequency: 1.039888250814838e-3
allele num: 64430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

DP
type: SiteQuality
SIO_000300: 4.852487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
all individuals: 48840
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variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.702412868632708e-5
allele num: 14920
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.862773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.089e0

QD
type: SiteQuality
SIO_000300: 8.15e0

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
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variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64590
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.60763843002511e-5
allele num: 15134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.109e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e0

QD
type: SiteQuality
SIO_000300: 1.55e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.001e0

FS
type: SiteQuality
SIO_000300: 1.912e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 4.8768e6

GenotypeQuality
all individuals: 420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 1904
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variant carriers: 0

GenotypeQuality
all individuals: 48838
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GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.572029442691903e-5
allele num: 15216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 4.889278e6

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48846
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15398
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.058873358746294e-4
allele num: 9444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.226e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.99e1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

DP
type: SiteQuality
SIO_000300: 4.892339e6

QD
type: SiteQuality
SIO_000300: 1.579e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1111
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GenotypeQuality
all individuals: 494
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GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.004621257785815e-4
allele num: 9954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 5.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

VQSLOD
type: SiteQuality
SIO_000300: -1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 4.928738e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 48847
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 491
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GenotypeQuality
all individuals: 129
bin: 4.75e1
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GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.573340195573855e-4
allele num: 66062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.940998e6

QD
type: SiteQuality
SIO_000300: 1.51e1

FS
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.367138951031569e-3
allele num: 16092
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 4.940998e6

FS
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 48849
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.173601679219657e-5
allele num: 16198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.584e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.946136e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.638e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017774692941425e-5
allele num: 66274
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.94997e6

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.964e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.139e1

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

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7228
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.25e1
variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.374e0

DP
type: SiteQuality
SIO_000300: 4.950761e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -7.458e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

QD
type: SiteQuality
SIO_000300: 3.366e1

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016409266409266e-5
allele num: 66304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.874e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 3.876e0

DP
type: SiteQuality
SIO_000300: 4.955178e6

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 9.15e0

GenotypeQuality
all individuals: 329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 48821
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variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.856665428889714e-4
allele num: 16158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.876e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 4.955178e6

MQ
type: SiteQuality
SIO_000300: 5.874e1

QD
type: SiteQuality
SIO_000300: 9.15e0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 48901
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variant carriers: 6

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 7748
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503693028283192e-5
allele num: 66612
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

DP
type: SiteQuality
SIO_000300: 4.955832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.731e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 1.404e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 446
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GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.156871818602499e-3
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
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: 10380
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.731e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 4.955832e6

FS
type: SiteQuality
SIO_000300: 1.404e0

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48865
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variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 4.346e0

DP
type: SiteQuality
SIO_000300: 4.956505e6

QD
type: SiteQuality
SIO_000300: 1.886e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 434
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GenotypeQuality
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GenotypeQuality
all individuals: 25
bin: 2.75e1
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.87e1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 4.956521e6

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

GenotypeQuality
all individuals: 1425
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GenotypeQuality
all individuals: 434
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GenotypeQuality
all individuals: 7870
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GenotypeQuality
all individuals: 462
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GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 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: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

QD
type: SiteQuality
SIO_000300: 1.42e1

VQSLOD
type: SiteQuality
SIO_000300: -5.638e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.882e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

DP
type: SiteQuality
SIO_000300: 4.956481e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.497e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 3.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.762e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

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: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000060000600006e-5
allele num: 66666
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.95727e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.341e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 4.95727e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.678e0

FS
type: SiteQuality
SIO_000300: 1.341e0

MQ
type: SiteQuality
SIO_000300: 5.494e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 3.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 473
allele frequency: 4.548076923076923e-2
allele num: 10400
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.641326883206634e-3
allele num: 11576
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.997967e6

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
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: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.288e0

DP
type: SiteQuality
SIO_000300: 4.965337e6

QD
type: SiteQuality
SIO_000300: 8.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.785e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 299
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GenotypeQuality
all individuals: 7910
bin: 6.25e1
variant carriers: 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: 10396
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East Asian
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allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 417
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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allele num: 16508
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African
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele frequency: 0.0e0
allele num: 11578
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

East Asian
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European (Finnish)
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South Asian
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Latino
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allele num: 11576
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European (Non-Finnish)
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Other
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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FS
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 66700
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
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QD
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11576
num of homozygotes: 0

East Asian
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African
type: Population
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Other
type: Population
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allele num: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
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South Asian
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European (Finnish)
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allele num: 6614
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 4.964629e6

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.528e0

QD
type: SiteQuality
SIO_000300: 1.45e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 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: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.363e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 4.964645e6

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 418
bin: 8.25e1
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: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 4.964525e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049443794788762e-4
allele num: 66702
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
type: SiteQuality
SIO_000300: 4.965491e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48975
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e0

FS
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 4.964613e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

VQSLOD
type: SiteQuality
SIO_000300: -1.951e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.209e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799100449775112e-4
allele num: 66700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 10400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.966084e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.964998e6

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e0

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.153e1

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
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: 16500
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.817e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

DP
type: SiteQuality
SIO_000300: 4.963996e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.013e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 435
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
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: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.5903e1

DP
type: SiteQuality
SIO_000300: 4.963385e6

MQ
type: SiteQuality
SIO_000300: 5.991e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.984e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.531e0

DP
type: SiteQuality
SIO_000300: 4.962747e6

QD
type: SiteQuality
SIO_000300: 1.291e1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.226e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.531e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.962747e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.226e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.776e-1

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

FS
type: SiteQuality
SIO_000300: 6.707e0

DP
type: SiteQuality
SIO_000300: 4.96142e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48976
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

DP
type: SiteQuality
SIO_000300: 4.961047e6

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48976
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 16458
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 4.961047e6

FS
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 16280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.95376e6

FS
type: SiteQuality
SIO_000300: 4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -6.991000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

GenotypeQuality
all individuals: 1064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6522
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.335e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 4.944825e6

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.988e0

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48977
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
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: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.928636e6

VQSLOD
type: SiteQuality
SIO_000300: -2.963e-1

QD
type: SiteQuality
SIO_000300: 5.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 1.449e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e0

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.889e0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48978
bin: 9.75e1
variant carriers: 30

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

Latino
type: Population
allele count: 27
allele frequency: 2.337257617728532e-3
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

DP
type: SiteQuality
SIO_000300: 4.92039e6

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.39386189258312e-5
allele num: 15640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.312e1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.838e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 4.907627e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 48980
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 15410
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.934984520123839e-4
allele num: 10336
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

FS
type: SiteQuality
SIO_000300: 2.353e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 4.905357e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

GenotypeQuality
all individuals: 437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48978
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 4.904599e6

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.372e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

GenotypeQuality
all individuals: 951
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 57
allele frequency: 8.620689655172414e-3
allele num: 6612
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 741
allele frequency: 1.127407722971123e-2
allele num: 65726
num of homozygotes: 2

African
type: Population
allele count: 8
allele frequency: 7.776049766718507e-4
allele num: 10288
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14800
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.202011444425178e-4
allele num: 11534
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 3.497e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 4.935833e6

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
all individuals: 547
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.459609064175748e-4
allele num: 11562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

FS
type: SiteQuality
SIO_000300: 6.608e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 9.41e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 2.035667e6

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8486
bin: 9.75e1
variant carriers: 401

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

Latino
type: Population
allele count: 22
allele frequency: 1.903114186851211e-3
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.942837306179125e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.469135802469136e-4
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 341
allele frequency: 3.279476822465859e-2
allele num: 10398
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.507888805409467e-4
allele num: 66550
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.622516556291391e-3
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e0

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 2.038876e6