1-85506676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506676
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30935G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.396+17C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.396+17C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4140C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.396+17C>T
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-85506685-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506685
    reference: chr 1
allele count: 32
allele frequency: 2.636305218236641e-4
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.396+8A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.396+8A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4131A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.396+8A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30926T>G
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 713
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3057
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: c.396+8A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-85506690-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506690
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4126A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.396+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.396+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.396+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30921T>A
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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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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: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.75e1
  variant carriers: 0
hgvs: c.396+3A>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-85506692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506692
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.396+1G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.396+1G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30919C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4124G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.396+1G>A
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: c.396+1G>A
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: C
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-85506696-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506696
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30915G>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4120C>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.393C>A
  hgvsp: ENSP00000474024.1:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.393C>A
  hgvsp: ENSP00000359621.1:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.393C>A
  hgvsp: ENSP00000359619.1:p.Asn131Lys
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn131Lys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-85506704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506704
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.385G>T
  hgvsp: ENSP00000474024.1:p.Ala129Ser
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4112G>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30907C>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.385G>T
  hgvsp: ENSP00000359621.1:p.Ala129Ser
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.385G>T
  hgvsp: ENSP00000359619.1:p.Ala129Ser
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala129Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-85506704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506704
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4112G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30907C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.385G>A
  hgvsp: ENSP00000359621.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.385G>A
  hgvsp: ENSP00000474024.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.385G>A
  hgvsp: ENSP00000359619.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala129Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-85506705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506705
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30906G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.384C>T
  hgvsp: ENST00000370587.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.384C>T
  hgvsp: ENST00000370589.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4111C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.384C>T
  hgvsp: ENST00000490600.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe128Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

1-85506711-T-TCTTATGGTGGAAATTAAACCCCAATATGATAGTCTTAAGAGGTGGAGTCTTTAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506766
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: TCTTATGGTGGAAATTAAACCCCAATATGATAGTCTTAAGAGGTGGAGTCTTTAGG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsp: ENSP00000474024.1:p.Leu126PhefsTer27
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsp: ENSP00000359619.1:p.Leu126PhefsTer40
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsp: ENSP00000359621.1:p.Leu126PhefsTer40
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu126PhefsTer40
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-85506714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506714
    reference: chr 1
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30897C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.375G>A
  hgvsp: ENST00000370587.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.375G>A
  hgvsp: ENST00000370589.2:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4102G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.375G>A
  hgvsp: ENST00000490600.2:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln125Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

1-85506715-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506715
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.374A>T
  hgvsp: ENSP00000359619.1:p.Gln125Leu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.374A>T
  hgvsp: ENSP00000359621.1:p.Gln125Leu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4101A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30896T>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.374A>T
  hgvsp: ENSP00000474024.1:p.Gln125Leu
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln125Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-85506718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506718
    reference: chr 1
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.371A>G
  hgvsp: ENSP00000474024.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.371A>G
  hgvsp: ENSP00000359621.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30893T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.371A>G
  hgvsp: ENSP00000359619.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4098A>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 3
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: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp124Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-85506725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506725
    reference: chr 1
allele count: 16
allele frequency: 1.318174328554951e-4
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.364G>A
  hgvsp: ENSP00000474024.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.364G>A
  hgvsp: ENSP00000359621.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.364G>A
  hgvsp: ENSP00000359619.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4091G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30886C>T
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38156
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val122Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-85506726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506726
    reference: chr 1
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.363C>T
  hgvsp: ENST00000370589.2:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30885G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4090C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.363C>T
  hgvsp: ENST00000490600.2:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.363C>T
  hgvsp: ENST00000370587.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp121Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-85506726-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506726
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.363C>G
  hgvsp: ENSP00000474024.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30885G>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.363C>G
  hgvsp: ENSP00000359621.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4090C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.363C>G
  hgvsp: ENSP00000359619.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11888
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp121Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-85506738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506738
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4078C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.351C>T
  hgvsp: ENST00000490600.2:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.351C>T
  hgvsp: ENST00000370589.2:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.351C>T
  hgvsp: ENST00000370587.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30873G>A
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr117Tyr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-85506739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506739
    reference: chr 1
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.350A>G
  hgvsp: ENSP00000359621.1:p.Tyr117Cys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.350A>G
  hgvsp: ENSP00000359619.1:p.Tyr117Cys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30872T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4077A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.350A>G
  hgvsp: ENSP00000474024.1:p.Tyr117Cys
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25009
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genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr117Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-85506757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506757
    reference: chr 1
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.332A>G
  hgvsp: ENSP00000359621.1:p.Asp111Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4059A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.332A>G
  hgvsp: ENSP00000359619.1:p.Asp111Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30854T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.332A>G
  hgvsp: ENSP00000474024.1:p.Asp111Gly
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 38161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp111Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-85506764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506764
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.325C>T
  hgvsp: ENSP00000474024.1:p.Arg109Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.325C>T
  hgvsp: ENSP00000359621.1:p.Arg109Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.325C>T
  hgvsp: ENSP00000359619.1:p.Arg109Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4052C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30847G>A
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 11889
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38163
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg109Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-85506768-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506768
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506768
    reference: chr 1
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.321G>T
  hgvsp: ENSP00000359619.1:p.Met107Ile
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4048G>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.321G>T
  hgvsp: ENSP00000474024.1:p.Met107Ile
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.321G>T
  hgvsp: ENSP00000359621.1:p.Met107Ile
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30843C>A
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met107Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-85506773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506773
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506773
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4043T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30838A>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.316T>C
  hgvsp: ENSP00000474024.1:p.Tyr106His
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.316T>C
  hgvsp: ENSP00000359621.1:p.Tyr106His
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.316T>C
  hgvsp: ENSP00000359619.1:p.Tyr106His
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr106His
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-85506790-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506790
    reference: chr 1
allele count: 5
allele frequency: 4.121128200056047e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30821T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4026A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.299A>G
  hgvsp: ENSP00000359621.1:p.His100Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.299A>G
  hgvsp: ENSP00000474024.1:p.His100Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.299A>G
  hgvsp: ENSP00000359619.1:p.His100Arg
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11882
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His100Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

1-85506800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506800
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.289G>A
  hgvsp: ENSP00000359621.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.289G>A
  hgvsp: ENSP00000474024.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.289G>A
  hgvsp: ENSP00000359619.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4016G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30811C>T
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
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genotype depth: GenotypeDepth
  all individuals: 159
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11865
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1303
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genotype quality: GenotypeQuality
  all individuals: 38069
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala97Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-85506802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506802
    reference: chr 1
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4014T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.287T>C
  hgvsp: ENSP00000474024.1:p.Ile96Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30809A>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.287T>C
  hgvsp: ENSP00000359621.1:p.Ile96Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.287T>C
  hgvsp: ENSP00000359619.1:p.Ile96Thr
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile96Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-85506832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506832
    reference: chr 1
allele count: 3
allele frequency: 2.484636663298604e-5
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.257T>C
  hgvsp: ENSP00000359619.1:p.Met86Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.257T>C
  hgvsp: ENSP00000474024.1:p.Met86Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.257T>C
  hgvsp: ENSP00000359621.1:p.Met86Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30779A>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3984T>C
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19292
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11697
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met86Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-85506834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506834
    reference: chr 1
allele count: 2
allele frequency: 1.657715005636231e-5
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.255G>A
  hgvsp: ENST00000370587.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3982G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30777C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.255G>A
  hgvsp: ENST00000490600.2:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.255G>A
  hgvsp: ENST00000370589.2:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11662
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln85Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-85506858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506858
    reference: chr 1
allele count: 1
allele frequency: 8.842202062001521e-6
allele num: 113094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30753C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.231G>A
  hgvsp: ENST00000370589.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.231G>A
  hgvsp: ENST00000370587.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3958G>A
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.231G>A
  hgvsp: ENST00000490600.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 1
hgvs: c.231G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-85506863-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506863
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506863
    reference: chr 1
allele count: 2
allele frequency: 1.831468288126591e-5
allele num: 109202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-3A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30748T>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-3A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-3A>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3953A>C
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24247
  bin: 6.25e1
  variant carriers: 0
hgvs: c.229-3A>C
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-85506864-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506864
    reference: chr 1
allele count: 3
allele frequency: 2.871967680790365e-5
allele num: 104458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-4T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30747A>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-4T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-4T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3952T>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13705
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18811
  bin: 6.25e1
  variant carriers: 0
hgvs: c.229-4T>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-85506868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506868
    reference: chr 1
allele count: 11
allele frequency: 1.084470384099692e-4
allele num: 101432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30743G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-8C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3948C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-8C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-8C>T
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16669
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20009
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
hgvs: c.229-8C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-85506868-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506869
    reference: chr 1
allele count: 5
allele frequency: 4.929410836816784e-5
allele num: 101432
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3947dupT
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-9dupT
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30735dupA
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-9dupT
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-9dupT
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16995
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-85506873-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506873
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506873
    reference: chr 1
allele count: 3
allele frequency: 2.914941992654346e-5
allele num: 102918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-13T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3943T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-13T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30738A>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-13T>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-85506880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506880
    reference: chr 1
allele count: 2
allele frequency: 2.033843150016271e-5
allele num: 98336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-20T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3936T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30731A>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-20T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-20T>C
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
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genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
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genotype quality: GenotypeQuality
  all individuals: 1850
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genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2293
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genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-85506885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506885
    reference: chr 1
allele count: 1
allele frequency: 1.065507394621319e-5
allele num: 93852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3931T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30726A>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-25T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-25T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-25T>C
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
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genotype quality: GenotypeQuality
  all individuals: 654
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
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genotype quality: GenotypeQuality
  all individuals: 9681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 471
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genotype quality: GenotypeQuality
  all individuals: 390
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-85506890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506890
    reference: chr 1
allele count: 1
allele frequency: 1.096948289857616e-5
allele num: 91162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30721G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-30C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3926C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-30C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-30C>T
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-85506891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506891
    reference: chr 1
allele count: 1
allele frequency: 1.123570256848161e-5
allele num: 89002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30720G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-31C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-31C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3925C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-31C>T
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6067
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-85506894-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506893
    reference: chr 1
allele count: 1
allele frequency: 1.141734980476332e-5
allele num: 87586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-35delT
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-35delT
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30713delA
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3921delT
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-35delT
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22495
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 7355
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genotype quality: GenotypeQuality
  all individuals: 21046
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genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4223
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 956
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: GA
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-85506898-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506898
    reference: chr 1
allele count: 4
allele frequency: 4.673552367154274e-5
allele num: 85588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-38T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30713A>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3918T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-38T>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-38T>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21709
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
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genotype quality: GenotypeQuality
  all individuals: 1369
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20019
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 550
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 7577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4295
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genotype quality: GenotypeQuality
  all individuals: 272
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genotype quality: GenotypeQuality
  all individuals: 529
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genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-85506901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506901
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506901
    reference: chr 1
allele count: 6
allele frequency: 7.156317835929487e-5
allele num: 83842
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-41A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30710T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3915A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-41A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-41A>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14125
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21353
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 243
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 121
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7515
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1494
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genotype quality: GenotypeQuality
  all individuals: 19459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-85506902-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506902
    reference: chr 1
allele count: 1
allele frequency: 1.199846419658284e-5
allele num: 83344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-42C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30709G>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3914C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-42C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-42C>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5763
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

1-85506903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85506903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85506903
    reference: chr 1
allele count: 2
allele frequency: 2.442419949686149e-5
allele num: 81886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.229-43C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-30708G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.229-43C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.229-43C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3913C>T
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14981
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7551
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-85510782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510782
    reference: chr 1
allele count: 8
allele frequency: 7.645552200007645e-5
allele num: 104636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+34C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.228+34C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.228+34C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.228+34C>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26829G>A
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23734
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-85510782-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510782
    reference: chr 1
allele count: 2
allele frequency: 1.911388050001911e-5
allele num: 104636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26829G>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.228+34C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+34C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.228+34C>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.228+34C>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23734
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4993
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genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
  all individuals: 27140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-85510789-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510789
    reference: chr 1
allele count: 2
allele frequency: 1.870802387143846e-5
allele num: 106906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.228+27T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.228+27T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.228+27T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+27T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26822A>G
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-85510794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510794
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510794
    reference: chr 1
allele count: 2
allele frequency: 1.829625292740047e-5
allele num: 109312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.228+22T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+22T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.228+22T>C
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26817A>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.228+22T>C
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 129
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34368
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3905
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genotype quality: GenotypeQuality
  all individuals: 1886
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genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-85510812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510812
    reference: chr 1
allele count: 1
allele frequency: 8.561937052638789e-6
allele num: 116796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26799T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.228+4A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.228+4A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.228+4A>G
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+4A>G
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47707
  bin: 6.25e1
  variant carriers: 0
hgvs: c.228+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-85510813-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510813
    reference: chr 1
allele count: 1
allele frequency: 8.542335816305611e-6
allele num: 117064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.228+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.228+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.228+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.228+3A>T
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26798T>A
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40511
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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
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11523
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 487
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 47917
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 240
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genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 191
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genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 542
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
hgvs: c.228+3A>T
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-85510825-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510825
    reference: chr 1
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26786C>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.219G>T
  hgvsp: ENST00000490600.2:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.219G>T
  hgvsp: ENST00000341115.4:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.219G>T
  hgvsp: ENST00000370589.2:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.219G>T
  hgvsp: ENST00000370587.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val73Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-85510830-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510830
    reference: chr 1
allele count: 5
allele frequency: 4.177598048226192e-5
allele num: 119686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.214A>G
  hgvsp: ENSP00000359619.1:p.Met72Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26781T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.214A>G
  hgvsp: ENSP00000342698.3:p.Met72Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.214A>G
  hgvsp: ENSP00000359621.1:p.Met72Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.214A>G
  hgvsp: ENSP00000474024.1:p.Met72Val
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met72Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-85510832-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510832
    reference: chr 1
allele count: 1
allele frequency: 8.3462700519138e-6
allele num: 119814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.212C>G
  hgvsp: ENSP00000342698.3:p.Ala71Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26779G>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.212C>G
  hgvsp: ENSP00000474024.1:p.Ala71Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.212C>G
  hgvsp: ENSP00000359619.1:p.Ala71Gly
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.212C>G
  hgvsp: ENSP00000359621.1:p.Ala71Gly
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50482
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala71Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-85510840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510840
    reference: chr 1
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26771T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.204A>G
  hgvsp: ENST00000370587.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.204A>G
  hgvsp: ENST00000341115.4:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.204A>G
  hgvsp: ENST00000370589.2:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.204A>G
  hgvsp: ENST00000490600.2:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu68Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

1-85510845-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510845
    reference: chr 1
allele count: 8
allele frequency: 6.646063868673779e-5
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.199A>G
  hgvsp: ENSP00000474024.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26766T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.199A>G
  hgvsp: ENSP00000359619.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.199A>G
  hgvsp: ENSP00000342698.3:p.Ile67Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.199A>G
  hgvsp: ENSP00000359621.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile67Val
num of homozygotes: 1
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-85510847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510847
    reference: chr 1
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.197A>G
  hgvsp: ENSP00000342698.3:p.Gln66Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.197A>G
  hgvsp: ENSP00000359619.1:p.Gln66Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.197A>G
  hgvsp: ENSP00000359621.1:p.Gln66Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26764T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.197A>G
  hgvsp: ENSP00000474024.1:p.Gln66Arg
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
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genotype quality: GenotypeQuality
  all individuals: 4990
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln66Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-85510851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510851
    reference: chr 1
allele count: 6
allele frequency: 4.977270464877061e-5
allele num: 120548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.193A>G
  hgvsp: ENSP00000474024.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.193A>G
  hgvsp: ENSP00000342698.3:p.Ile65Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.193A>G
  hgvsp: ENSP00000359619.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.193A>G
  hgvsp: ENSP00000359621.1:p.Ile65Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26760T>C
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51260
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 440
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 189
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile65Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

1-85510858-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510858
    reference: chr 1
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26753T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.186A>G
  hgvsp: ENST00000490600.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.186A>G
  hgvsp: ENST00000370589.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.186A>G
  hgvsp: ENST00000370587.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.186A>G
  hgvsp: ENST00000341115.4:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
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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: 129
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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
  all individuals: 425
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genotype depth: GenotypeDepth
  all individuals: 16
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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: 190
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51275
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 353
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys62Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS

1-85510862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510862
    reference: chr 1
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.182G>A
  hgvsp: ENSP00000342698.3:p.Trp61Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.182G>A
  hgvsp: ENSP00000359621.1:p.Trp61Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26749C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.182G>A
  hgvsp: ENSP00000474024.1:p.Trp61Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.182G>A
  hgvsp: ENSP00000359619.1:p.Trp61Ter
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp61Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

1-85510867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510867
    reference: chr 1
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.177A>G
  hgvsp: ENST00000490600.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.177A>G
  hgvsp: ENST00000341115.4:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26744T>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.177A>G
  hgvsp: ENST00000370589.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.177A>G
  hgvsp: ENST00000370587.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys59Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-85510874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510874
    reference: chr 1
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26737C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.170G>A
  hgvsp: ENSP00000342698.3:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.170G>A
  hgvsp: ENSP00000474024.1:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.170G>A
  hgvsp: ENSP00000359621.1:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.170G>A
  hgvsp: ENSP00000359619.1:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly57Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-85510875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510875
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510875
    reference: chr 1
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.169G>T
  hgvsp: ENSP00000359621.1:p.Gly57Cys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.169G>T
  hgvsp: ENSP00000359619.1:p.Gly57Cys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26736C>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.169G>T
  hgvsp: ENSP00000474024.1:p.Gly57Cys
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.169G>T
  hgvsp: ENSP00000342698.3:p.Gly57Cys
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly57Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

1-85510876-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510876
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510876
    reference: chr 1
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.168A>C
  hgvsp: ENST00000341115.4:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.168A>C
  hgvsp: ENST00000490600.2:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.168A>C
  hgvsp: ENST00000370587.1:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.168A>C
  hgvsp: ENST00000370589.2:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26735T>G
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg56Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-85510877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510877
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510877
    reference: chr 1
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.167G>A
  hgvsp: ENSP00000474024.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.167G>A
  hgvsp: ENSP00000359621.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26734C>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.167G>A
  hgvsp: ENSP00000342698.3:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.167G>A
  hgvsp: ENSP00000359619.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg56Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-85510878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510878
    reference: chr 1
allele count: 6
allele frequency: 4.962450789029675e-5
allele num: 120908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.166C>T
  hgvsp: ENSP00000474024.1:p.Arg56Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.166C>T
  hgvsp: ENSP00000342698.3:p.Arg56Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.166C>T
  hgvsp: ENSP00000359621.1:p.Arg56Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26733G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.166C>T
  hgvsp: ENSP00000359619.1:p.Arg56Ter
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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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: 898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg56Ter
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-85510885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510885
    reference: chr 1
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26726G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.159C>T
  hgvsp: ENST00000370587.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.159C>T
  hgvsp: ENST00000341115.4:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.159C>T
  hgvsp: ENST00000490600.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.159C>T
  hgvsp: ENST00000370589.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe53Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-85510898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510898
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.146C>T
  hgvsp: ENSP00000359619.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.146C>T
  hgvsp: ENSP00000359621.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.146C>T
  hgvsp: ENSP00000474024.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26713G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.146C>T
  hgvsp: ENSP00000342698.3:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro49Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-85510898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510898
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26713G>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.146C>G
  hgvsp: ENSP00000359619.1:p.Pro49Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.146C>G
  hgvsp: ENSP00000474024.1:p.Pro49Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.146C>G
  hgvsp: ENSP00000342698.3:p.Pro49Arg
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.146C>G
  hgvsp: ENSP00000359621.1:p.Pro49Arg
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro49Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-85510899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510899
    reference: chr 1
allele count: 3
allele frequency: 2.478314745972738e-5
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.145C>A
  hgvsp: ENSP00000474024.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.145C>A
  hgvsp: ENSP00000342698.3:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.145C>A
  hgvsp: ENSP00000359621.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.145C>A
  hgvsp: ENSP00000359619.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26712G>T
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41234
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 129
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5062
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51495
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro49Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-85510902-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510902
    reference: chr 1
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.142A>C
  hgvsp: ENSP00000359619.1:p.Asn48His
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.142A>C
  hgvsp: ENSP00000474024.1:p.Asn48His
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26709T>G
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.142A>C
  hgvsp: ENSP00000342698.3:p.Asn48His
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.142A>C
  hgvsp: ENSP00000359621.1:p.Asn48His
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn48His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-85510906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510906
    reference: chr 1
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.138C>T
  hgvsp: ENST00000370587.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.138C>T
  hgvsp: ENST00000370589.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26705G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.138C>T
  hgvsp: ENST00000341115.4:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.138C>T
  hgvsp: ENST00000490600.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe46Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-85510906-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510905
    reference: chr 1
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.137delT
  hgvsp: ENSP00000359621.1:p.Phe46SerfsTer2
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.137delT
  hgvsp: ENSP00000359619.1:p.Phe46SerfsTer2
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.137delT
  hgvsp: ENSP00000342698.3:p.Phe46SerfsTer2
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.137delT
  hgvsp: ENSP00000474024.1:p.Phe46SerfsTer2
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26697delA
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe46SerfsTer2
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: GA
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-85510915-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510915
    reference: chr 1
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.129A>T
  hgvsp: ENSP00000474024.1:p.Lys43Asn
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26696T>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.129A>T
  hgvsp: ENSP00000359621.1:p.Lys43Asn
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.129A>T
  hgvsp: ENSP00000359619.1:p.Lys43Asn
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.129A>T
  hgvsp: ENSP00000342698.3:p.Lys43Asn
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys43Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-85510920-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510920
    reference: chr 1
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.124C>G
  hgvsp: ENSP00000474024.1:p.Leu42Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.124C>G
  hgvsp: ENSP00000359619.1:p.Leu42Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26691G>C
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.124C>G
  hgvsp: ENSP00000359621.1:p.Leu42Val
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.124C>G
  hgvsp: ENSP00000342698.3:p.Leu42Val
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu42Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-85510925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510925
    reference: chr 1
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.119G>A
  hgvsp: ENSP00000474024.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.119G>A
  hgvsp: ENSP00000342698.3:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.119G>A
  hgvsp: ENSP00000359619.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.119G>A
  hgvsp: ENSP00000359621.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26686C>T
  variant of: http://identifiers.org/hgnc/30711
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg40Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-85510926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510926
    reference: chr 1
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26685G>A
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.118C>T
  hgvsp: ENSP00000342698.3:p.Arg40Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.118C>T
  hgvsp: ENSP00000359621.1:p.Arg40Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.118C>T
  hgvsp: ENSP00000359619.1:p.Arg40Ter
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.118C>T
  hgvsp: ENSP00000474024.1:p.Arg40Ter
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg40Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

1-85510926-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85510926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 85510926
    reference: chr 1
allele count: 150
allele frequency: 1.23760333987888e-3
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359619
  ensembl transcript: ENST00000370587
  gene symbol: MCOLN3
  hgvsc: ENST00000370587.1:c.118C>A
  hgvsp: ENST00000370587.1:c.118C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000474024
  ensembl transcript: ENST00000490600
  gene symbol: MCOLN3
  hgvsc: ENST00000490600.2:c.118C>A
  hgvsp: ENST00000490600.2:c.118C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000359621
  ensembl transcript: ENST00000370589
  gene symbol: MCOLN3
  hgvsc: ENST00000370589.2:c.118C>A
  hgvsp: ENST00000370589.2:c.118C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162643
  ensembl protein: ENSP00000359628
  ensembl transcript: ENST00000370596
  gene symbol: WDR63
  hgvsc: ENST00000370596.1:c.-14-26685G>T
  variant of: http://identifiers.org/hgnc/30711
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055732
  ensembl protein: ENSP00000342698
  ensembl transcript: ENST00000341115
  gene symbol: MCOLN3
  hgvsc: ENST00000341115.4:c.118C>A
  hgvsp: ENST00000341115.4:c.118C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13358
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40855
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51446
  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: 7.5e0
  variant carriers: 0
hgvs: p.Arg40Arg
num of homozygotes: 1
reference allele: G

GenotypeQuality
all individuals: 2911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11877
bin: 6.75e1
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: 8.650519031141868e-5
allele num: 11560
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: 10402
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.903308e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

FS
type: SiteQuality
SIO_000300: 3.138e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.269e0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
all individuals: 2536
bin: 9.75e1
variant carriers: 32

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
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: 30
allele frequency: 1.817080557238038e-3
allele num: 16510
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

DP
type: SiteQuality
SIO_000300: 1.904841e6

QD
type: SiteQuality
SIO_000300: 1.446e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

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

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Latino
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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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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Other
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European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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European (Finnish)
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Other
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East Asian
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Latino
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num of homozygotes: 0

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

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

FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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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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East Asian
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African
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Other
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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FS
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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European (Finnish)
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allele num: 6614
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Other
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East Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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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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variant carriers: 4

South 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
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Other
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African
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allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
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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 frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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allele num: 908
num of homozygotes: 0

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

Latino
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allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66722
num of homozygotes: 0

Latino
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Other
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East Asian
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South Asian
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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allele num: 66706
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South Asian
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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MQ
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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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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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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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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European (Finnish)
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Latino
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520114509567576e-5
allele num: 66370
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 1.880189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

FS
type: SiteQuality
SIO_000300: 7.472e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.327e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.182e0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.931993817619784e-4
allele num: 10352
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.744e0

DP
type: SiteQuality
SIO_000300: 1.87737e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.531e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.573e1

DP
type: SiteQuality
SIO_000300: 1.674e6

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.274e0

FS
type: SiteQuality
SIO_000300: 4.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 1069
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.362814002757508e-5
allele num: 59474
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.81e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.559664e6

GenotypeQuality
all individuals: 480
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.286343612334802e-5
allele num: 56750
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 6.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.385265e6

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeQuality
all individuals: 16995
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1252
bin: 3.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.354203935599284e-4
allele num: 8944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.45608095810127e-4
allele num: 54942
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.369552e6

FS
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

QD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeQuality
all individuals: 2913
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.651254953764861e-4
allele num: 6056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.460303592879764e-5
allele num: 54942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 1.369552e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 285
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GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.026479329910835e-4
allele num: 14804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.391e1

MQ
type: SiteQuality
SIO_000300: 5.816e1

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.315783e6

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.765910973864578e-5
allele num: 53108
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.016e-1

DP
type: SiteQuality
SIO_000300: 1.155655e6

FS
type: SiteQuality
SIO_000300: 9.528e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1906
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GenotypeQuality
all individuals: 791
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50370
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 8520
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East Asian
type: Population
allele count: 1
allele frequency: 1.616031027795734e-4
allele num: 6188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

DP
type: SiteQuality
SIO_000300: 1.046476e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeQuality
all individuals: 229
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48814
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.33998825601879e-5
allele num: 13624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 1.002336e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 276
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GenotypeQuality
all individuals: 428
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
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: 13404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.102872523867603e-5
allele num: 47554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5698
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.997e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.849e0

DP
type: SiteQuality
SIO_000300: 9.778e5

QD
type: SiteQuality
SIO_000300: 8.56e0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.140227720229432e-5
allele num: 46724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.65737e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 2.062e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.063256241384592e-4
allele num: 13058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.41431e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.459e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.078e0

QD
type: SiteQuality
SIO_000300: 1.606e1

GenotypeQuality
all individuals: 374
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: 538
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variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.27715996578272e-4
allele num: 7014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.494988088281566e-5
allele num: 44494
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 9.30944e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
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variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.262341070539795e-5
allele num: 44202
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 9.26629e5

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.547e1

GenotypeQuality
all individuals: 3329
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 529
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.613184481247405e-5
allele num: 43354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12658
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.454e0

QD
type: SiteQuality
SIO_000300: 1.049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 9.19446e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 657
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 8.356545961002785e-4
allele num: 7180
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.106684373616645e-4
allele num: 9036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 1.142074e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
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variant carriers: 2

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 740
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GenotypeQuality
all individuals: 722
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56934
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.985702938840349e-4
allele num: 10072
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

FS
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.142074e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 2769
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 399
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.435481654527965e-5
allele num: 58216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.035e0

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.509e0

DP
type: SiteQuality
SIO_000300: 1.218195e6

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.354804079441761e-5
allele num: 59616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 2.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.273963e6

QD
type: SiteQuality
SIO_000300: 1.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558700667123886e-5
allele num: 64156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 1.392925e6

VQSLOD
type: SiteQuality
SIO_000300: -1.355e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.744e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.514e0

GenotypeQuality
all individuals: 378
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
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variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 841
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.265664160401002e-5
allele num: 15960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64306
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.39645e6

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 49737
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GenotypeQuality
all individuals: 840
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GenotypeQuality
all individuals: 432
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variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

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

Latino
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allele frequency: 8.781173164734808e-5
allele num: 11388
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: 6564
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 5.3e-3

MQRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

QD
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ReadPosRankSum
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SIO_000300: 9.61e-1

VQSLOD
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FS
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SIO_000300: 4.757e0

DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.58794427413725e-5
allele num: 65894
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Latino
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allele frequency: 0.0e0
allele num: 11432
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9998
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Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 9.982032341784787e-5
allele num: 10018
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8548
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -9.5e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
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South Asian
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allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
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allele frequency: 8.712319219376198e-5
allele num: 11478
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East Asian
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allele frequency: 0.0e0
allele num: 8570
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Other
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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DP
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SIO_000300: 1.445212e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele frequency: 4.86677211339579e-4
allele num: 16438
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66330
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8582
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

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
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DP
type: SiteQuality
SIO_000300: 1.44793e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10056
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South Asian
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allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
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MQRankSum
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DP
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10070
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8598
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.645643456069996e-4
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
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QD
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DP
type: SiteQuality
SIO_000300: 1.449977e6

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

East Asian
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allele frequency: 0.0e0
allele num: 8598
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

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

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

Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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allele num: 6604
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South Asian
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East Asian
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allele num: 8604
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African
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Other
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African
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allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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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: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.095e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

DP
type: SiteQuality
SIO_000300: 1.45474e6

VQSLOD
type: SiteQuality
SIO_000300: -1.28e0

FS
type: SiteQuality
SIO_000300: 8.744999999999999e0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
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GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.826e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

DP
type: SiteQuality
SIO_000300: 1.45482e6

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
all individuals: 896
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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: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 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: 10152
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.455125e6

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-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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bin: 9.75e1
variant carriers: 6

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
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
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allele count: 5
allele frequency: 4.918355301987016e-4
allele num: 10166
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.455601e6

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.444e0

MQRankSum
type: SiteQuality
SIO_000300: -9.87e-1

DP
type: SiteQuality
SIO_000300: 1.456232e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.166e0

QD
type: SiteQuality
SIO_000300: 7.27e0

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: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.7114e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

QD
type: SiteQuality
SIO_000300: 8.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 1.457479e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.457479e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 1.7114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 3
allele frequency: 2.9296875e-4
allele num: 10240
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.182e1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

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: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
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allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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: 840
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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: 16488
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
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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: 92
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GenotypeQuality
all individuals: 182
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
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DP
type: SiteQuality
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GenotypeQuality
all individuals: 1043
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 155
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
SIO_000300: 7.73e0

VQSLOD
type: SiteQuality
SIO_000300: -4.384e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e0

DP
type: SiteQuality
SIO_000300: 1.46041e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.460462e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 3.261e0

MQRankSum
type: SiteQuality
SIO_000300: -1.269e0

QD
type: SiteQuality
SIO_000300: 1.551e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 7.25e1
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: 10308
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.460885e6

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
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: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.469e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

QD
type: SiteQuality
SIO_000300: 1.622e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.466163e6