12-46320759-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320759
    reference: chr 12
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2725T>A
  hgvsp: ENSP00000413036.2:p.Ser909Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1780T>A
  hgvsp: ENSP00000449812.1:p.Ser594Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2149T>A
  hgvsp: ENSP00000448864.1:p.Ser717Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2725T>A
  hgvsp: ENSP00000358374.3:p.Ser909Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2545T>A
  hgvsp: ENSP00000446746.1:p.Ser849Thr
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser909Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-46320765-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320765
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320765
    reference: chr 12
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2143T>G
  hgvsp: ENSP00000448864.1:p.Ser715Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1774T>G
  hgvsp: ENSP00000449812.1:p.Ser592Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2539T>G
  hgvsp: ENSP00000446746.1:p.Ser847Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2719T>G
  hgvsp: ENSP00000358374.3:p.Ser907Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2719T>G
  hgvsp: ENSP00000413036.2:p.Ser907Ala
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 11557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser907Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

12-46320782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320782
    reference: chr 12
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2702C>T
  hgvsp: ENSP00000413036.2:p.Ser901Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2126C>T
  hgvsp: ENSP00000448864.1:p.Ser709Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2522C>T
  hgvsp: ENSP00000446746.1:p.Ser841Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1757C>T
  hgvsp: ENSP00000449812.1:p.Ser586Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2702C>T
  hgvsp: ENSP00000358374.3:p.Ser901Phe
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4954
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser901Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-46320800-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320800
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320797
    reference: chr 12
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_gained
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2105_2107delCTC
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_gained
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2501_2503delCTC
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_gained
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2681_2683delCTC
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_gained
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1736_1738delCTC
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: stop_gained
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2681_2683delCTC
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser894_Gln895delinsTer
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: TGAG
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-46320809-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320809
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320809
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2675A>G
  hgvsp: ENSP00000358374.3:p.Lys892Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2099A>G
  hgvsp: ENSP00000448864.1:p.Lys700Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2495A>G
  hgvsp: ENSP00000446746.1:p.Lys832Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2675A>G
  hgvsp: ENSP00000413036.2:p.Lys892Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1730A>G
  hgvsp: ENSP00000449812.1:p.Lys577Arg
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys892Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-46320814-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320814
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320814
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2670G>C
  hgvsp: ENSP00000358374.3:p.Glu890Asp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2490G>C
  hgvsp: ENSP00000446746.1:p.Glu830Asp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1725G>C
  hgvsp: ENSP00000449812.1:p.Glu575Asp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2094G>C
  hgvsp: ENSP00000448864.1:p.Glu698Asp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2670G>C
  hgvsp: ENSP00000413036.2:p.Glu890Asp
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu890Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

12-46320819-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320819
    reference: chr 12
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2089A>G
  hgvsp: ENSP00000448864.1:p.Arg697Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2665A>G
  hgvsp: ENSP00000413036.2:p.Arg889Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1720A>G
  hgvsp: ENSP00000449812.1:p.Arg574Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2485A>G
  hgvsp: ENSP00000446746.1:p.Arg829Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2665A>G
  hgvsp: ENSP00000358374.3:p.Arg889Gly
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg889Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-46320821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320821
    reference: chr 12
allele count: 12
allele frequency: 9.900009900009901e-5
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2087C>T
  hgvsp: ENSP00000448864.1:p.Ser696Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1718C>T
  hgvsp: ENSP00000449812.1:p.Ser573Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2483C>T
  hgvsp: ENSP00000446746.1:p.Ser828Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2663C>T
  hgvsp: ENSP00000413036.2:p.Ser888Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2663C>T
  hgvsp: ENSP00000358374.3:p.Ser888Phe
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser888Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-46320827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320827
    reference: chr 12
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2477A>G
  hgvsp: ENSP00000446746.1:p.Glu826Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2081A>G
  hgvsp: ENSP00000448864.1:p.Glu694Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2657A>G
  hgvsp: ENSP00000358374.3:p.Glu886Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1712A>G
  hgvsp: ENSP00000449812.1:p.Glu571Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2657A>G
  hgvsp: ENSP00000413036.2:p.Glu886Gly
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu886Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-46320828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320828
    reference: chr 12
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2476G>A
  hgvsp: ENSP00000446746.1:p.Glu826Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2656G>A
  hgvsp: ENSP00000413036.2:p.Glu886Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1711G>A
  hgvsp: ENSP00000449812.1:p.Glu571Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2080G>A
  hgvsp: ENSP00000448864.1:p.Glu694Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2656G>A
  hgvsp: ENSP00000358374.3:p.Glu886Lys
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu886Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-46320833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320833
    reference: chr 12
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1706G>A
  hgvsp: ENSP00000449812.1:p.Arg569Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2651G>A
  hgvsp: ENSP00000358374.3:p.Arg884Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2075G>A
  hgvsp: ENSP00000448864.1:p.Arg692Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2471G>A
  hgvsp: ENSP00000446746.1:p.Arg824Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2651G>A
  hgvsp: ENSP00000413036.2:p.Arg884Lys
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg884Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-46320834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320834
    reference: chr 12
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2074A>G
  hgvsp: ENSP00000448864.1:p.Arg692Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2650A>G
  hgvsp: ENSP00000358374.3:p.Arg884Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2650A>G
  hgvsp: ENSP00000413036.2:p.Arg884Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2470A>G
  hgvsp: ENSP00000446746.1:p.Arg824Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1705A>G
  hgvsp: ENSP00000449812.1:p.Arg569Gly
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31807
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11650
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg884Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-46320835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320835
    reference: chr 12
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2469A>G
  hgvsp: ENST00000547018.1:c.2469A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2649A>G
  hgvsp: ENST00000419565.2:c.2649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2649A>G
  hgvsp: ENST00000369367.3:c.2649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1704A>G
  hgvsp: ENST00000465950.1:c.1704A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2073A>G
  hgvsp: ENST00000549162.1:c.2073A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro883Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-46320836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320836
    reference: chr 12
allele count: 9
allele frequency: 7.423292642692181e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2648C>T
  hgvsp: ENSP00000358374.3:p.Pro883Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2648C>T
  hgvsp: ENSP00000413036.2:p.Pro883Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2468C>T
  hgvsp: ENSP00000446746.1:p.Pro823Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2072C>T
  hgvsp: ENSP00000448864.1:p.Pro691Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1703C>T
  hgvsp: ENSP00000449812.1:p.Pro568Leu
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro883Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-46320843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320843
    reference: chr 12
allele count: 7
allele frequency: 5.773005426625101e-5
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2641C>T
  hgvsp: ENST00000369367.3:c.2641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2461C>T
  hgvsp: ENST00000547018.1:c.2461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2065C>T
  hgvsp: ENST00000549162.1:c.2065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1696C>T
  hgvsp: ENST00000465950.1:c.1696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2641C>T
  hgvsp: ENST00000419565.2:c.2641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu881Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-46320843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320843
    reference: chr 12
allele count: 13
allele frequency: 1.072129579230376e-4
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1696C>G
  hgvsp: ENSP00000449812.1:p.Leu566Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2461C>G
  hgvsp: ENSP00000446746.1:p.Leu821Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2641C>G
  hgvsp: ENSP00000413036.2:p.Leu881Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2065C>G
  hgvsp: ENSP00000448864.1:p.Leu689Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2641C>G
  hgvsp: ENSP00000358374.3:p.Leu881Val
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu881Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-46320852-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320852
    reference: chr 12
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2632T>G
  hgvsp: ENSP00000413036.2:p.Ser878Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2452T>G
  hgvsp: ENSP00000446746.1:p.Ser818Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1687T>G
  hgvsp: ENSP00000449812.1:p.Ser563Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2056T>G
  hgvsp: ENSP00000448864.1:p.Ser686Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2632T>G
  hgvsp: ENSP00000358374.3:p.Ser878Ala
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser878Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum

12-46320859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320859
    reference: chr 12
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2445C>T
  hgvsp: ENST00000547018.1:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1680C>T
  hgvsp: ENST00000465950.1:c.1680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2049C>T
  hgvsp: ENST00000549162.1:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2625C>T
  hgvsp: ENST00000369367.3:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2625C>T
  hgvsp: ENST00000419565.2:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser875Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-46320860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320860
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320860
    reference: chr 12
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1679G>A
  hgvsp: ENSP00000449812.1:p.Ser560Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2624G>A
  hgvsp: ENSP00000358374.3:p.Ser875Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2444G>A
  hgvsp: ENSP00000446746.1:p.Ser815Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2048G>A
  hgvsp: ENSP00000448864.1:p.Ser683Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2624G>A
  hgvsp: ENSP00000413036.2:p.Ser875Asn
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31809
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser875Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-46320870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320870
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2614A>G
  hgvsp: ENSP00000413036.2:p.Thr872Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2434A>G
  hgvsp: ENSP00000446746.1:p.Thr812Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2614A>G
  hgvsp: ENSP00000358374.3:p.Thr872Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1669A>G
  hgvsp: ENSP00000449812.1:p.Thr557Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2038A>G
  hgvsp: ENSP00000448864.1:p.Thr680Ala
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr872Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-46320876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320876
    reference: chr 12
allele count: 444
allele frequency: 3.661976477574518e-3
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2608G>T
  hgvsp: ENSP00000358374.3:p.Asp870Tyr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2428G>T
  hgvsp: ENSP00000446746.1:p.Asp810Tyr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2608G>T
  hgvsp: ENSP00000413036.2:p.Asp870Tyr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1663G>T
  hgvsp: ENSP00000449812.1:p.Asp555Tyr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2032G>T
  hgvsp: ENSP00000448864.1:p.Asp678Tyr
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 9.75e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31968
  bin: 9.75e1
  variant carriers: 443
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp870Tyr
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-46320876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320876
    reference: chr 12
allele count: 30
allele frequency: 2.474308430793593e-4
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2608G>A
  hgvsp: ENSP00000358374.3:p.Asp870Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1663G>A
  hgvsp: ENSP00000449812.1:p.Asp555Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2608G>A
  hgvsp: ENSP00000413036.2:p.Asp870Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2032G>A
  hgvsp: ENSP00000448864.1:p.Asp678Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2428G>A
  hgvsp: ENSP00000446746.1:p.Asp810Asn
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31968
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp870Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-46320878-CTTTTTGGAGACCGAGACTGAGATTGCCTCCTTTCTCTTGCAATATCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320878
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320830
    reference: chr 12
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsp: ENSP00000448864.1:p.Lys661_Lys676del
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsp: ENSP00000358374.3:p.Lys853_Lys868del
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsp: ENSP00000446746.1:p.Lys793_Lys808del
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsp: ENSP00000449812.1:p.Lys538_Lys553del
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsp: ENSP00000413036.2:p.Lys853_Lys868del
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31880
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys853_Lys868del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: CTTTTTGGAGACCGAGACTGAGATTGCCTCCTTTCTCTTGCAATATCCT
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-46320890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320890
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320890
    reference: chr 12
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2414G>T
  hgvsp: ENSP00000446746.1:p.Arg805Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2594G>T
  hgvsp: ENSP00000413036.2:p.Arg865Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2594G>T
  hgvsp: ENSP00000358374.3:p.Arg865Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1649G>T
  hgvsp: ENSP00000449812.1:p.Arg550Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2018G>T
  hgvsp: ENSP00000448864.1:p.Arg673Leu
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg865Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-46320891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320891
    reference: chr 12
allele count: 6
allele frequency: 4.948616861587186e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2413C>T
  hgvsp: ENSP00000446746.1:p.Arg805Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2017C>T
  hgvsp: ENSP00000448864.1:p.Arg673Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2593C>T
  hgvsp: ENSP00000413036.2:p.Arg865Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1648C>T
  hgvsp: ENSP00000449812.1:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2593C>T
  hgvsp: ENSP00000358374.3:p.Arg865Trp
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg865Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-46320895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320895
    reference: chr 12
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2589G>C
  hgvsp: ENSP00000413036.2:p.Gln863His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2409G>C
  hgvsp: ENSP00000446746.1:p.Gln803His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1644G>C
  hgvsp: ENSP00000449812.1:p.Gln548His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2589G>C
  hgvsp: ENSP00000358374.3:p.Gln863His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2013G>C
  hgvsp: ENSP00000448864.1:p.Gln671His
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln863His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-46320905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320905
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320905
    reference: chr 12
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.2003G>A
  hgvsp: ENSP00000448864.1:p.Arg668Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2579G>A
  hgvsp: ENSP00000358374.3:p.Arg860Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1634G>A
  hgvsp: ENSP00000449812.1:p.Arg545Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2579G>A
  hgvsp: ENSP00000413036.2:p.Arg860Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2399G>A
  hgvsp: ENSP00000446746.1:p.Arg800Lys
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg860Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-46320912-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320912
    reference: chr 12
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2392G>C
  hgvsp: ENSP00000446746.1:p.Glu798Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1996G>C
  hgvsp: ENSP00000448864.1:p.Glu666Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2572G>C
  hgvsp: ENSP00000358374.3:p.Glu858Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2572G>C
  hgvsp: ENSP00000413036.2:p.Glu858Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1627G>C
  hgvsp: ENSP00000449812.1:p.Glu543Gln
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu858Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-46320917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320917
    reference: chr 12
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2567C>T
  hgvsp: ENSP00000358374.3:p.Ala856Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2387C>T
  hgvsp: ENSP00000446746.1:p.Ala796Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1991C>T
  hgvsp: ENSP00000448864.1:p.Ala664Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1622C>T
  hgvsp: ENSP00000449812.1:p.Ala541Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2567C>T
  hgvsp: ENSP00000413036.2:p.Ala856Val
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala856Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-46320917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320917
    reference: chr 12
allele count: 14
allele frequency: 1.154391635608035e-4
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2387C>G
  hgvsp: ENSP00000446746.1:p.Ala796Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2567C>G
  hgvsp: ENSP00000413036.2:p.Ala856Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1991C>G
  hgvsp: ENSP00000448864.1:p.Ala664Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1622C>G
  hgvsp: ENSP00000449812.1:p.Ala541Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2567C>G
  hgvsp: ENSP00000358374.3:p.Ala856Gly
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala856Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-46320923-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320923
    reference: chr 12
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2561A>T
  hgvsp: ENSP00000413036.2:p.Asp854Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2561A>T
  hgvsp: ENSP00000358374.3:p.Asp854Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1616A>T
  hgvsp: ENSP00000449812.1:p.Asp539Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2381A>T
  hgvsp: ENSP00000446746.1:p.Asp794Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1985A>T
  hgvsp: ENSP00000448864.1:p.Asp662Val
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
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: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp854Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-46320928-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320928
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320928
    reference: chr 12
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2376A>C
  hgvsp: ENSP00000446746.1:p.Lys792Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2556A>C
  hgvsp: ENSP00000358374.3:p.Lys852Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2556A>C
  hgvsp: ENSP00000413036.2:p.Lys852Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1980A>C
  hgvsp: ENSP00000448864.1:p.Lys660Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1611A>C
  hgvsp: ENSP00000449812.1:p.Lys537Asn
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys852Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-46320931-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320931
    reference: chr 12
allele count: 409
allele frequency: 3.371527491550573e-3
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2553A>T
  hgvsp: ENST00000369367.3:c.2553A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1977A>T
  hgvsp: ENST00000549162.1:c.1977A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2373A>T
  hgvsp: ENST00000547018.1:c.2373A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1608A>T
  hgvsp: ENST00000465950.1:c.1608A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2553A>T
  hgvsp: ENST00000419565.2:c.2553A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32018
  bin: 9.75e1
  variant carriers: 407
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro851Pro
num of homozygotes: 2
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

12-46320936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320936
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320936
    reference: chr 12
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2548T>C
  hgvsp: ENSP00000358374.3:p.Ser850Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2548T>C
  hgvsp: ENSP00000413036.2:p.Ser850Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1603T>C
  hgvsp: ENSP00000449812.1:p.Ser535Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1972T>C
  hgvsp: ENSP00000448864.1:p.Ser658Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2368T>C
  hgvsp: ENSP00000446746.1:p.Ser790Pro
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser850Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-46320937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320937
    reference: chr 12
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1602G>A
  hgvsp: ENST00000465950.1:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2547G>A
  hgvsp: ENST00000369367.3:c.2547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2367G>A
  hgvsp: ENST00000547018.1:c.2367G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2547G>A
  hgvsp: ENST00000419565.2:c.2547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1971G>A
  hgvsp: ENST00000549162.1:c.1971G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln849Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-46320944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320944
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320944
    reference: chr 12
allele count: 2989
allele frequency: 2.463691663507031e-2
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1595G>A
  hgvsp: ENSP00000449812.1:p.Arg532His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2540G>A
  hgvsp: ENSP00000413036.2:p.Arg847His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2540G>A
  hgvsp: ENSP00000358374.3:p.Arg847His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2360G>A
  hgvsp: ENSP00000446746.1:p.Arg787His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1964G>A
  hgvsp: ENSP00000448864.1:p.Arg655His
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 9.75e1
  variant carriers: 2673
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32681
  bin: 9.75e1
  variant carriers: 2926
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg847His
num of homozygotes: 62
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-46320947-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320947
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320947
    reference: chr 12
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2537C>G
  hgvsp: ENSP00000413036.2:p.Ser846Cys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2537C>G
  hgvsp: ENSP00000358374.3:p.Ser846Cys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2357C>G
  hgvsp: ENSP00000446746.1:p.Ser786Cys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1961C>G
  hgvsp: ENSP00000448864.1:p.Ser654Cys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1592C>G
  hgvsp: ENSP00000449812.1:p.Ser531Cys
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31164
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser846Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-46320955-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320955
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320955
    reference: chr 12
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1584G>C
  hgvsp: ENST00000465950.1:c.1584G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1953G>C
  hgvsp: ENST00000549162.1:c.1953G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2529G>C
  hgvsp: ENST00000369367.3:c.2529G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2349G>C
  hgvsp: ENST00000547018.1:c.2349G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2529G>C
  hgvsp: ENST00000419565.2:c.2529G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg843Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

12-46320956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320956
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320956
    reference: chr 12
allele count: 25
allele frequency: 2.061039753334762e-4
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2528G>A
  hgvsp: ENSP00000358374.3:p.Arg843Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1952G>A
  hgvsp: ENSP00000448864.1:p.Arg651Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2528G>A
  hgvsp: ENSP00000413036.2:p.Arg843Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1583G>A
  hgvsp: ENSP00000449812.1:p.Arg528Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2348G>A
  hgvsp: ENSP00000446746.1:p.Arg783Gln
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg843Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-46320957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320957
    reference: chr 12
allele count: 46
allele frequency: 3.792313146135962e-4
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1951C>T
  hgvsp: ENSP00000448864.1:p.Arg651Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2527C>T
  hgvsp: ENSP00000413036.2:p.Arg843Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1582C>T
  hgvsp: ENSP00000449812.1:p.Arg528Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2347C>T
  hgvsp: ENSP00000446746.1:p.Arg783Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2527C>T
  hgvsp: ENSP00000358374.3:p.Arg843Trp
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 9.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg843Trp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

12-46320957-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320957
    reference: chr 12
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2527C>A
  hgvsp: ENST00000369367.3:c.2527C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1582C>A
  hgvsp: ENST00000465950.1:c.1582C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2347C>A
  hgvsp: ENST00000547018.1:c.2347C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1951C>A
  hgvsp: ENST00000549162.1:c.1951C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2527C>A
  hgvsp: ENST00000419565.2:c.2527C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg843Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-46320959-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320959
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2525G>T
  hgvsp: ENSP00000358374.3:p.Gly842Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1580G>T
  hgvsp: ENSP00000449812.1:p.Gly527Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2345G>T
  hgvsp: ENSP00000446746.1:p.Gly782Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2525G>T
  hgvsp: ENSP00000413036.2:p.Gly842Val
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1949G>T
  hgvsp: ENSP00000448864.1:p.Gly650Val
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly842Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-46320975-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320975
    reference: chr 12
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1933A>C
  hgvsp: ENSP00000448864.1:p.Asn645His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2509A>C
  hgvsp: ENSP00000358374.3:p.Asn837His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1564A>C
  hgvsp: ENSP00000449812.1:p.Asn522His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2329A>C
  hgvsp: ENSP00000446746.1:p.Asn777His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2509A>C
  hgvsp: ENSP00000413036.2:p.Asn837His
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12262
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn837His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

12-46320980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320980
    reference: chr 12
allele count: 16
allele frequency: 1.319239458452202e-4
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1559C>T
  hgvsp: ENSP00000449812.1:p.Pro520Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1928C>T
  hgvsp: ENSP00000448864.1:p.Pro643Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2504C>T
  hgvsp: ENSP00000413036.2:p.Pro835Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2324C>T
  hgvsp: ENSP00000446746.1:p.Pro775Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2504C>T
  hgvsp: ENSP00000358374.3:p.Pro835Leu
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31170
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro835Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

12-46320981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320981
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320981
    reference: chr 12
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2503C>T
  hgvsp: ENSP00000358374.3:p.Pro835Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2503C>T
  hgvsp: ENSP00000413036.2:p.Pro835Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1927C>T
  hgvsp: ENSP00000448864.1:p.Pro643Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2323C>T
  hgvsp: ENSP00000446746.1:p.Pro775Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1558C>T
  hgvsp: ENSP00000449812.1:p.Pro520Ser
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5254
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genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro835Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

12-46320984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320984
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320984
    reference: chr 12
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2500T>C
  hgvsp: ENSP00000413036.2:p.Ser834Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2320T>C
  hgvsp: ENSP00000446746.1:p.Ser774Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2500T>C
  hgvsp: ENSP00000358374.3:p.Ser834Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1924T>C
  hgvsp: ENSP00000448864.1:p.Ser642Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1555T>C
  hgvsp: ENSP00000449812.1:p.Ser519Pro
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31170
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser834Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-46320986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320986
    reference: chr 12
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2498C>T
  hgvsp: ENSP00000358374.3:p.Pro833Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1922C>T
  hgvsp: ENSP00000448864.1:p.Pro641Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2318C>T
  hgvsp: ENSP00000446746.1:p.Pro773Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1553C>T
  hgvsp: ENSP00000449812.1:p.Pro518Leu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2498C>T
  hgvsp: ENSP00000413036.2:p.Pro833Leu
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro833Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-46320991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320991
    reference: chr 12
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2493A>G
  hgvsp: ENST00000369367.3:c.2493A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2313A>G
  hgvsp: ENST00000547018.1:c.2313A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2493A>G
  hgvsp: ENST00000419565.2:c.2493A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1917A>G
  hgvsp: ENST00000549162.1:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1548A>G
  hgvsp: ENST00000465950.1:c.1548A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln831Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-46320999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46320999
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46320999
    reference: chr 12
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2485A>G
  hgvsp: ENSP00000358374.3:p.Lys829Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2485A>G
  hgvsp: ENSP00000413036.2:p.Lys829Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2305A>G
  hgvsp: ENSP00000446746.1:p.Lys769Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1909A>G
  hgvsp: ENSP00000448864.1:p.Lys637Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1540A>G
  hgvsp: ENSP00000449812.1:p.Lys514Glu
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31172
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys829Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-46321013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321013
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321013
    reference: chr 12
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2471G>A
  hgvsp: ENSP00000413036.2:p.Gly824Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2291G>A
  hgvsp: ENSP00000446746.1:p.Gly764Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1895G>A
  hgvsp: ENSP00000448864.1:p.Gly632Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2471G>A
  hgvsp: ENSP00000358374.3:p.Gly824Glu
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1526G>A
  hgvsp: ENSP00000449812.1:p.Gly509Glu
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly824Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

12-46321024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321024
    reference: chr 12
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2460A>G
  hgvsp: ENST00000369367.3:c.2460A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1515A>G
  hgvsp: ENST00000465950.1:c.1515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2280A>G
  hgvsp: ENST00000547018.1:c.2280A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2460A>G
  hgvsp: ENST00000419565.2:c.2460A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1884A>G
  hgvsp: ENST00000549162.1:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31173
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg820Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-46321031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321031
    reference: chr 12
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2453C>T
  hgvsp: ENSP00000358374.3:p.Ser818Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2273C>T
  hgvsp: ENSP00000446746.1:p.Ser758Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1508C>T
  hgvsp: ENSP00000449812.1:p.Ser503Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1877C>T
  hgvsp: ENSP00000448864.1:p.Ser626Phe
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2453C>T
  hgvsp: ENSP00000413036.2:p.Ser818Phe
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser818Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

12-46321032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321032
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321032
    reference: chr 12
allele count: 3
allele frequency: 2.475696908679793e-5
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2272T>C
  hgvsp: ENSP00000446746.1:p.Ser758Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1507T>C
  hgvsp: ENSP00000449812.1:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2452T>C
  hgvsp: ENSP00000413036.2:p.Ser818Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1876T>C
  hgvsp: ENSP00000448864.1:p.Ser626Pro
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2452T>C
  hgvsp: ENSP00000358374.3:p.Ser818Pro
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31176
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser818Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-46321033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321033
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321033
    reference: chr 12
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2451A>G
  hgvsp: ENST00000369367.3:c.2451A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2271A>G
  hgvsp: ENST00000547018.1:c.2271A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2451A>G
  hgvsp: ENST00000419565.2:c.2451A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1875A>G
  hgvsp: ENST00000549162.1:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1506A>G
  hgvsp: ENST00000465950.1:c.1506A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro817Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-46321040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321040
    reference: chr 12
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2264A>G
  hgvsp: ENSP00000446746.1:p.Gln755Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2444A>G
  hgvsp: ENSP00000358374.3:p.Gln815Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1868A>G
  hgvsp: ENSP00000448864.1:p.Gln623Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1499A>G
  hgvsp: ENSP00000449812.1:p.Gln500Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2444A>G
  hgvsp: ENSP00000413036.2:p.Gln815Arg
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln815Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-46321043-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321043
    reference: chr 12
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1865C>G
  hgvsp: ENSP00000448864.1:p.Pro622Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2441C>G
  hgvsp: ENSP00000413036.2:p.Pro814Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2261C>G
  hgvsp: ENSP00000446746.1:p.Pro754Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2441C>G
  hgvsp: ENSP00000358374.3:p.Pro814Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1496C>G
  hgvsp: ENSP00000449812.1:p.Pro499Arg
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31173
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro814Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-46321044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321044
    reference: chr 12
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1864C>T
  hgvsp: ENSP00000448864.1:p.Pro622Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2440C>T
  hgvsp: ENSP00000358374.3:p.Pro814Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2260C>T
  hgvsp: ENSP00000446746.1:p.Pro754Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1495C>T
  hgvsp: ENSP00000449812.1:p.Pro499Ser
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2440C>T
  hgvsp: ENSP00000413036.2:p.Pro814Ser
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro814Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-46321046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321046
    reference: chr 12
allele count: 4
allele frequency: 3.300711303285858e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1493G>A
  hgvsp: ENSP00000449812.1:p.Arg498Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2438G>A
  hgvsp: ENSP00000358374.3:p.Arg813Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1862G>A
  hgvsp: ENSP00000448864.1:p.Arg621Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2438G>A
  hgvsp: ENSP00000413036.2:p.Arg813Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2258G>A
  hgvsp: ENSP00000446746.1:p.Arg753Gln
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31174
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg813Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-46321047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321047
    reference: chr 12
allele count: 4
allele frequency: 3.30114714863415e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2257C>T
  hgvsp: ENSP00000446746.1:p.Arg753Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1492C>T
  hgvsp: ENSP00000449812.1:p.Arg498Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2437C>T
  hgvsp: ENSP00000413036.2:p.Arg813Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2437C>T
  hgvsp: ENSP00000358374.3:p.Arg813Trp
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1861C>T
  hgvsp: ENSP00000448864.1:p.Arg621Trp
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12200
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg813Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-46321051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321051
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321051
    reference: chr 12
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1488G>A
  hgvsp: ENST00000465950.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1857G>A
  hgvsp: ENST00000549162.1:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2433G>A
  hgvsp: ENST00000419565.2:c.2433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2253G>A
  hgvsp: ENST00000547018.1:c.2253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2433G>A
  hgvsp: ENST00000369367.3:c.2433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys811Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

12-46321056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321056
    reference: chr 12
allele count: 3
allele frequency: 2.475942095967516e-5
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2248G>A
  hgvsp: ENSP00000446746.1:p.Glu750Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2428G>A
  hgvsp: ENSP00000413036.2:p.Glu810Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2428G>A
  hgvsp: ENSP00000358374.3:p.Glu810Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1852G>A
  hgvsp: ENSP00000448864.1:p.Glu618Lys
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1483G>A
  hgvsp: ENSP00000449812.1:p.Glu495Lys
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31176
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu810Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-46321058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321058
    reference: chr 12
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2246A>G
  hgvsp: ENSP00000446746.1:p.Gln749Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2426A>G
  hgvsp: ENSP00000358374.3:p.Gln809Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1850A>G
  hgvsp: ENSP00000448864.1:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2426A>G
  hgvsp: ENSP00000413036.2:p.Gln809Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1481A>G
  hgvsp: ENSP00000449812.1:p.Gln494Arg
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln809Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

12-46321068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321068
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2416G>A
  hgvsp: ENSP00000413036.2:p.Asp806Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1840G>A
  hgvsp: ENSP00000448864.1:p.Asp614Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2416G>A
  hgvsp: ENSP00000358374.3:p.Asp806Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1471G>A
  hgvsp: ENSP00000449812.1:p.Asp491Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2236G>A
  hgvsp: ENSP00000446746.1:p.Asp746Asn
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp806Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

12-46321077-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321077
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321077
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2227C>A
  hgvsp: ENSP00000446746.1:p.Pro743Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1462C>A
  hgvsp: ENSP00000449812.1:p.Pro488Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2407C>A
  hgvsp: ENSP00000413036.2:p.Pro803Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1831C>A
  hgvsp: ENSP00000448864.1:p.Pro611Thr
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2407C>A
  hgvsp: ENSP00000358374.3:p.Pro803Thr
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro803Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

12-46321089-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321089
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2215A>G
  hgvsp: ENSP00000446746.1:p.Thr739Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1450A>G
  hgvsp: ENSP00000449812.1:p.Thr484Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2395A>G
  hgvsp: ENSP00000413036.2:p.Thr799Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1819A>G
  hgvsp: ENSP00000448864.1:p.Thr607Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2395A>G
  hgvsp: ENSP00000358374.3:p.Thr799Ala
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr799Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-46321090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321090
    reference: chr 12
allele count: 16
allele frequency: 1.318369835698159e-4
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1818T>C
  hgvsp: ENST00000549162.1:c.1818T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1449T>C
  hgvsp: ENST00000465950.1:c.1449T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2214T>C
  hgvsp: ENST00000547018.1:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2394T>C
  hgvsp: ENST00000419565.2:c.2394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2394T>C
  hgvsp: ENST00000369367.3:c.2394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31187
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser798Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-46321101-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321101
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2383C>A
  hgvsp: ENSP00000413036.2:p.His795Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2383C>A
  hgvsp: ENSP00000358374.3:p.His795Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2203C>A
  hgvsp: ENSP00000446746.1:p.His735Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1438C>A
  hgvsp: ENSP00000449812.1:p.His480Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1807C>A
  hgvsp: ENSP00000448864.1:p.His603Asn
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His795Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

12-46321115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321115
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321115
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2189G>A
  hgvsp: ENSP00000446746.1:p.Arg730Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2369G>A
  hgvsp: ENSP00000413036.2:p.Arg790Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1424G>A
  hgvsp: ENSP00000449812.1:p.Arg475Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2369G>A
  hgvsp: ENSP00000358374.3:p.Arg790Gln
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1793G>A
  hgvsp: ENSP00000448864.1:p.Arg598Gln
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg790Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-46321116-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321116
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321116
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2368C>G
  hgvsp: ENSP00000358374.3:p.Arg790Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2188C>G
  hgvsp: ENSP00000446746.1:p.Arg730Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1423C>G
  hgvsp: ENSP00000449812.1:p.Arg475Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1792C>G
  hgvsp: ENSP00000448864.1:p.Arg598Gly
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2368C>G
  hgvsp: ENSP00000413036.2:p.Arg790Gly
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31183
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg790Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-46321117-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321117
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2367T>G
  hgvsp: ENST00000369367.3:c.2367T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1791T>G
  hgvsp: ENST00000549162.1:c.1791T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1422T>G
  hgvsp: ENST00000465950.1:c.1422T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2367T>G
  hgvsp: ENST00000419565.2:c.2367T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2187T>G
  hgvsp: ENST00000547018.1:c.2187T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr789Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-46321121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321121
    reference: chr 12
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2363G>A
  hgvsp: ENSP00000358374.3:p.Arg788His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2363G>A
  hgvsp: ENSP00000413036.2:p.Arg788His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2183G>A
  hgvsp: ENSP00000446746.1:p.Arg728His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1418G>A
  hgvsp: ENSP00000449812.1:p.Arg473His
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1787G>A
  hgvsp: ENSP00000448864.1:p.Arg596His
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg788His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-46321124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321124
    reference: chr 12
allele count: 102
allele frequency: 8.402807526279369e-4
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1415C>G
  hgvsp: ENSP00000449812.1:p.Pro472Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1784C>G
  hgvsp: ENSP00000448864.1:p.Pro595Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2360C>G
  hgvsp: ENSP00000358374.3:p.Pro787Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2360C>G
  hgvsp: ENSP00000413036.2:p.Pro787Arg
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2180C>G
  hgvsp: ENSP00000446746.1:p.Pro727Arg
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro787Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-46321126-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321126
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1413G>C
  hgvsp: ENSP00000449812.1:p.Lys471Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2358G>C
  hgvsp: ENSP00000413036.2:p.Lys786Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1782G>C
  hgvsp: ENSP00000448864.1:p.Lys594Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2358G>C
  hgvsp: ENSP00000358374.3:p.Lys786Asn
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2178G>C
  hgvsp: ENSP00000446746.1:p.Lys726Asn
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys786Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-46321139-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46321139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 46321139
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000358374
  ensembl transcript: ENST00000369367
  gene symbol: SCAF11
  hgvsc: ENST00000369367.3:c.2345A>C
  hgvsp: ENSP00000358374.3:p.Asp782Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000448864
  ensembl transcript: ENST00000549162
  gene symbol: SCAF11
  hgvsc: ENST00000549162.1:c.1769A>C
  hgvsp: ENSP00000448864.1:p.Asp590Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000413036
  ensembl transcript: ENST00000419565
  gene symbol: SCAF11
  hgvsc: ENST00000419565.2:c.2345A>C
  hgvsp: ENSP00000413036.2:p.Asp782Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000449812
  ensembl transcript: ENST00000465950
  gene symbol: SCAF11
  hgvsc: ENST00000465950.1:c.1400A>C
  hgvsp: ENSP00000449812.1:p.Asp467Ala
  variant of: http://identifiers.org/hgnc/10784
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139218
  ensembl protein: ENSP00000446746
  ensembl transcript: ENST00000547018
  gene symbol: SCAF11
  hgvsc: ENST00000547018.1:c.2165A>C
  hgvsp: ENSP00000446746.1:p.Asp722Ala
  variant of: http://identifiers.org/hgnc/10784
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp782Ala
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11549
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 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: 6612
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.343e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.524e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

DP
type: SiteQuality
SIO_000300: 2.825628e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31806
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 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: 10332
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.18e0

DP
type: SiteQuality
SIO_000300: 2.825569e6

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.549e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3188
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2229
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.462e-1

DP
type: SiteQuality
SIO_000300: 2.825456e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

FS
type: SiteQuality
SIO_000300: 5.15e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11634
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.63e1

DP
type: SiteQuality
SIO_000300: 2.825709e6

FS
type: SiteQuality
SIO_000300: 1.731e0

MQRankSum
type: SiteQuality
SIO_000300: -2.799e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.473e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.038e0

GenotypeQuality
all individuals: 31807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4965
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

VQSLOD
type: SiteQuality
SIO_000300: -5.661e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.029e0

DP
type: SiteQuality
SIO_000300: 2.82599e6

GenotypeQuality
all individuals: 2229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.826164e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

FS
type: SiteQuality
SIO_000300: 3.805e0

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -3.677e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

GenotypeQuality
all individuals: 2229
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
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: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

FS
type: SiteQuality
SIO_000300: 3.104e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

DP
type: SiteQuality
SIO_000300: 2.826425e6

QD
type: SiteQuality
SIO_000300: 1.42e1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31811
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500690317546071e-4
allele num: 66636
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 2.827932e6

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31808
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 16500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.005e0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.140000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.701e1

DP
type: SiteQuality
SIO_000300: 2.827149e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 16502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.662e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.149e0

VQSLOD
type: SiteQuality
SIO_000300: -3.388e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

DP
type: SiteQuality
SIO_000300: 2.827038e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3189
bin: 7.75e1
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.227e0

VQSLOD
type: SiteQuality
SIO_000300: -4.65e-2

DP
type: SiteQuality
SIO_000300: 2.827013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 2229
bin: 9.25e1
variant carriers: 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: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 6614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.14e0

QD
type: SiteQuality
SIO_000300: 1.747e1

DP
type: SiteQuality
SIO_000300: 2.827298e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2239
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 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: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
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: 10366
num of homozygotes: 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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.2e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
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SIO_000300: -9.5e-2

BaseQRankSum
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SIO_000300: -1.838e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 2.827126e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.041184636742249e-3
allele num: 8644
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.864e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.828105e6

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2231
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GenotypeQuality
all individuals: 28
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.241910071506484e-4
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.554e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

DP
type: SiteQuality
SIO_000300: 2.82949e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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GenotypeQuality
all individuals: 3189
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.501650363079878e-5
allele num: 66652
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: 11562
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

QD
type: SiteQuality
SIO_000300: 1.554e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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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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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

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

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

African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

Other
type: Population
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allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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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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Other
type: Population
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allele num: 908
num of homozygotes: 0

African
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allele frequency: 9.652509652509652e-5
allele num: 10360
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

FS
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 72
allele frequency: 4.363107502120955e-3
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 27
allele frequency: 3.122831367106176e-3
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 320
allele frequency: 4.800768122899664e-3
allele num: 66656
num of homozygotes: 1

African
type: Population
allele count: 5
allele frequency: 4.828118964851294e-4
allele num: 10356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.885053e6

QD
type: SiteQuality
SIO_000300: 1.256e1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.732e0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.267916540671303e-3
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800288046087374e-4
allele num: 66656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.732e0

DP
type: SiteQuality
SIO_000300: 2.885053e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

GenotypeQuality
all individuals: 1415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 10354
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.358e0

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

MQ
type: SiteQuality
SIO_000300: 5.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 9.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 2.838567e6

GenotypeQuality
all individuals: 4956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31880
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 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

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: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

DP
type: SiteQuality
SIO_000300: 2.838989e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: -4.139e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.059e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 1415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31880
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001140216641162e-5
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
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: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

DP
type: SiteQuality
SIO_000300: 2.8399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 1415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31880
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 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: 16502
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.672e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.355e0

QD
type: SiteQuality
SIO_000300: 1.191e1

DP
type: SiteQuality
SIO_000300: 2.839626e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 2634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
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: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
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: 11564
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.840202e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.451e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 6.221e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.435e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

GenotypeQuality
all individuals: 4962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31880
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.564e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.598e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.840303e6

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31882
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3186
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

DP
type: SiteQuality
SIO_000300: 2.842121e6

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31882
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 11865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799964000719986e-4
allele num: 66668
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

DP
type: SiteQuality
SIO_000300: 2.842121e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 2635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 11886
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GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.543e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.621e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

DP
type: SiteQuality
SIO_000300: 2.841023e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: -7.89e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

QD
type: SiteQuality
SIO_000300: 1.275e1

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

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31880
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
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: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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: 4.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 3.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -3.714e-1

QD
type: SiteQuality
SIO_000300: 1.518e1

DP
type: SiteQuality
SIO_000300: 2.841131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 354
allele frequency: 5.308142150247414e-3
allele num: 66690
num of homozygotes: 1

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.781460782424359e-4
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.052222030088189e-4
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.594194133655882e-3
allele num: 6614
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 2.890907e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 31836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.993e1

FS
type: SiteQuality
SIO_000300: 1.3675e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 2.84878e6

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.837e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.848782e6

FS
type: SiteQuality
SIO_000300: 3.098e0

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e0

GenotypeQuality
all individuals: 3094
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11688
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 67
allele frequency: 6.457208943716268e-3
allele num: 10376
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2568
allele frequency: 3.850305865419216e-2
allele num: 66696
num of homozygotes: 58

European (Finnish)
type: Population
allele count: 199
allele frequency: 3.008769277290596e-2
allele num: 6614
num of homozygotes: 3

Latino
type: Population
allele count: 86
allele frequency: 7.433016421780467e-3
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 2.202643171806168e-2
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.311604253351826e-3
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.756936871440688e-3
allele num: 16506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

DP
type: SiteQuality
SIO_000300: 3.14808e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.301e1

GenotypeQuality
all individuals: 5247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
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: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.869592e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
all individuals: 3284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 66698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.869324e6

QD
type: SiteQuality
SIO_000300: 7.87e0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31175
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 21
allele frequency: 2.028593508500773e-3
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 2.87123e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12263
bin: 6.25e1
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: 9
allele frequency: 7.780082987551867e-4
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.965527668581796e-3
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.448275862068965e-4
allele num: 66700
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

DP
type: SiteQuality
SIO_000300: 2.873844e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 1364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 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: 1.499250374812594e-5
allele num: 66700
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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.444e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.873844e6

GenotypeQuality
all individuals: 2307
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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: -3.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.870187e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 8.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 2.878e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.869771e6

QD
type: SiteQuality
SIO_000300: 1.375e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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bin: 7.25e1
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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

East Asian
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allele count: 16
allele frequency: 1.849283402681461e-3
allele num: 8652
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 2.871459e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.485e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.439e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.373e1

FS
type: SiteQuality
SIO_000300: 4.972e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.768e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3289
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

DP
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SIO_000300: 2.870066e6

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 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: 10282
num of homozygotes: 0

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

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

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: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.109e0

DP
type: SiteQuality
SIO_000300: 2.870076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.633e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e0

QD
type: SiteQuality
SIO_000300: 1.578e1

FS
type: SiteQuality
SIO_000300: 1.342e0

VQSLOD
type: SiteQuality
SIO_000300: -3.928e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.869868e6

MQRankSum
type: SiteQuality
SIO_000300: -1.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

East Asian
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allele num: 8646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.483e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
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Other
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allele num: 908
num of homozygotes: 0

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

East Asian
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allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

QD
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.868963e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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BaseQRankSum
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MQ
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VQSLOD
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FS
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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variant carriers: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

Other
type: Population
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.215e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e0

FS
type: SiteQuality
SIO_000300: 4.371e0

VQSLOD
type: SiteQuality
SIO_000300: -1.129e0

DP
type: SiteQuality
SIO_000300: 2.869105e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31172
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1364
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
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

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

African
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.401e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.086e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.869752e6

GenotypeQuality
all individuals: 5237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12179
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

South Asian
type: Population
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: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.815e-1

FS
type: SiteQuality
SIO_000300: 6.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 2.869713e6

GenotypeQuality
all individuals: 31175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2654
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
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: 10200
num of homozygotes: 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: 6612
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.234e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.869728e6

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
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

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 2.870026e6

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

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

GenotypeQuality
all individuals: 24
bin: 7.5e0
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GenotypeQuality
all individuals: 1364
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31172
bin: 9.75e1
variant carriers: 4

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

DP
type: SiteQuality
SIO_000300: 2.870099e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.493e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
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variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31172
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2184
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 2
allele frequency: 1.964250638381458e-4
allele num: 10182
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: 1.498890820792613e-5
allele num: 66716
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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.229e0

MQ
type: SiteQuality
SIO_000300: 5.545e1

FS
type: SiteQuality
SIO_000300: 1.19444e2

QD
type: SiteQuality
SIO_000300: 7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.595e0

MQRankSum
type: SiteQuality
SIO_000300: -2.805e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 2.870361e6

VQSLOD
type: SiteQuality
SIO_000300: -6.902e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 5239
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.960015680125441e-4
allele num: 10204
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.225e0

DP
type: SiteQuality
SIO_000300: 2.87044e6

MQ
type: SiteQuality
SIO_000300: 5.681e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.913e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.758e0

FS
type: SiteQuality
SIO_000300: 8.070699999999999e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.95579894386857e-4
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.870448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.893e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

FS
type: SiteQuality
SIO_000300: 3.602e0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.481e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.996e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

DP
type: SiteQuality
SIO_000300: 2.871492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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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: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.401e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.872301e6

MQ
type: SiteQuality
SIO_000300: 5.918e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.81e0

FS
type: SiteQuality
SIO_000300: 2.625e0

QD
type: SiteQuality
SIO_000300: 1.66e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.872499e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.097692538207971e-4
allele num: 66740
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.733e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 2.873646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.583e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 66738
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: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

DP
type: SiteQuality
SIO_000300: 2.872844e6

FS
type: SiteQuality
SIO_000300: 1.534e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5273
bin: 6.75e1
variant carriers: 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: 11574
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 2.872819e6

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.872845e6

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.731e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.532e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
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variant carriers: 0

GenotypeQuality
all individuals: 12372
bin: 6.25e1
variant carriers: 0

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

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

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

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

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: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.86e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.742e0

DP
type: SiteQuality
SIO_000300: 2.872849e6

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: -1.813e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.589e0

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: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 2.873027e6

FS
type: SiteQuality
SIO_000300: 1.103e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

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: 102

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 7
allele frequency: 6.046993780234969e-4
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 94
allele frequency: 9.04716073147257e-3
allele num: 10390
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

DP
type: SiteQuality
SIO_000300: 2.882411e6

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
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

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 2.875298e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

QD
type: SiteQuality
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