18-43435571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435571
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435571
    reference: chr 18
allele count: 1
allele frequency: 8.35812911637859e-6
allele num: 119644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1301C>T
  hgvsp: ENST00000590854.1:c.1301C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.384C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7524C>T
  hgvsp: ENST00000282041.5:c.7524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly2508Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-43435572-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435572
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435572
    reference: chr 18
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1300G>T
  hgvsp: ENSP00000467066.1:p.Gly434Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.383G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7523G>T
  hgvsp: ENSP00000282041.4:p.Gly2508Val
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly2508Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

18-43435572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435572
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435572
    reference: chr 18
allele count: 9
allele frequency: 7.518796992481203e-5
allele num: 119700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.383G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7523G>A
  hgvsp: ENSP00000282041.4:p.Gly2508Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1300G>A
  hgvsp: ENSP00000467066.1:p.Gly434Asp
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49678
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1080
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly2508Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

18-43435591-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435591
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435591
    reference: chr 18
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1281C>G
  hgvsp: ENSP00000467066.1:p.Gln428Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.364C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7504C>G
  hgvsp: ENSP00000282041.4:p.Gln2502Glu
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49885
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln2502Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

18-43435600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435600
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435600
    reference: chr 18
allele count: 54
allele frequency: 4.496327998800979e-4
allele num: 120098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1272A>G
  hgvsp: ENSP00000467066.1:p.Met425Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.355A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7495A>G
  hgvsp: ENSP00000282041.4:p.Met2499Val
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40853
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49791
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met2499Val
num of homozygotes: 1
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-43435601-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435601
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435601
    reference: chr 18
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7494T>G
  hgvsp: ENST00000282041.5:c.7494T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.354T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1271T>G
  hgvsp: ENST00000590854.1:c.1271T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2498Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/18-43435605-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435605
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435604
    reference: chr 18
allele count: 1
allele frequency: 8.327365388138501e-6
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1266delG
  hgvsp: ENSP00000467066.1:p.Val423PhefsTer9
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.349delG
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7489delG
  hgvsp: ENSP00000282041.4:p.Val2497PhefsTer9
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val2497PhefsTer9
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: AC
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

18-43435609-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435609
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435609
    reference: chr 18
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.346C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7486C>G
  hgvsp: ENSP00000282041.4:p.Gln2496Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1263C>G
  hgvsp: ENSP00000467066.1:p.Gln422Glu
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln2496Glu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

18-43435617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435617
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435617
    reference: chr 18
allele count: 1
allele frequency: 8.333472224537076e-6
allele num: 119998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1255T>C
  hgvsp: ENSP00000467066.1:p.Leu419Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.338T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7478T>C
  hgvsp: ENSP00000282041.4:p.Leu2493Pro
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2493Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

18-43435619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435619
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435619
    reference: chr 18
allele count: 8
allele frequency: 6.6690008169526e-5
allele num: 119958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.336C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7476C>T
  hgvsp: ENST00000282041.5:c.7476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1253C>T
  hgvsp: ENST00000590854.1:c.1253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe2492Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

18-43435620-A-AAGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435620
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435624
    reference: chr 18
allele count: 1
allele frequency: 8.337085021593051e-6
allele num: 119946
alternate allele: AAGGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1248_1251dupGCCT
  hgvsp: ENSP00000467066.1:p.Phe418CysfsTer20
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7471_7474dupGCCT
  hgvsp: ENSP00000282041.4:p.Phe2492CysfsTer20
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.331_334dupGCCT
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe2492CysfsTer20
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-43435630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435630
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435630
    reference: chr 18
allele count: 5
allele frequency: 4.175993051147563e-5
allele num: 119732
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7465A>G
  hgvsp: ENSP00000282041.4:p.Met2489Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1242A>G
  hgvsp: ENSP00000467066.1:p.Met415Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.325A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met2489Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

18-43435637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435637
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435637
    reference: chr 18
allele count: 9
allele frequency: 7.534154835253148e-5
allele num: 119456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.318C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1235C>T
  hgvsp: ENST00000590854.1:c.1235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7458C>T
  hgvsp: ENST00000282041.5:c.7458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  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: 1703
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2486Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

18-43435639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435639
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435639
    reference: chr 18
allele count: 1
allele frequency: 8.387150884844418e-6
allele num: 119230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1233G>A
  hgvsp: ENSP00000467066.1:p.Ala412Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7456G>A
  hgvsp: ENSP00000282041.4:p.Ala2486Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.316G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48653
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2486Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

18-43435641-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435641
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435641
    reference: chr 18
allele count: 1
allele frequency: 8.406328283932143e-6
allele num: 118958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7454T>A
  hgvsp: ENSP00000282041.4:p.Val2485Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1231T>A
  hgvsp: ENSP00000467066.1:p.Val411Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.314T>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 48010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val2485Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43435645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435645
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435645
    reference: chr 18
allele count: 1
allele frequency: 8.411702360323682e-6
allele num: 118882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7450G>T
  hgvsp: ENSP00000282041.4:p.Val2484Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1227G>T
  hgvsp: ENSP00000467066.1:p.Val410Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.310G>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val2484Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43435647-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435647
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435647
    reference: chr 18
allele count: 3
allele frequency: 2.528828646570908e-5
allele num: 118632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7448G>T
  hgvsp: ENSP00000282041.4:p.Arg2483Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.308G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1225G>T
  hgvsp: ENSP00000467066.1:p.Arg409Leu
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2483Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

18-43435647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435647
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435647
    reference: chr 18
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7448G>A
  hgvsp: ENSP00000282041.4:p.Arg2483Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1225G>A
  hgvsp: ENSP00000467066.1:p.Arg409Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.308G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg2483Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-43435649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435649
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435649
    reference: chr 18
allele count: 15
allele frequency: 1.267041711013127e-4
allele num: 118386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7446C>T
  hgvsp: ENST00000282041.5:c.7446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1223C>T
  hgvsp: ENST00000590854.1:c.1223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.306C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47457
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe2482Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

18-43435664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435664
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435664
    reference: chr 18
allele count: 1
allele frequency: 8.679802100512108e-6
allele num: 115210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-12C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-12C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-12C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41238
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-43435666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435666
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435666
    reference: chr 18
allele count: 158
allele frequency: 1.380974023703807e-3
allele num: 114412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-14C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-14C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-14C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30207
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 38725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 158
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

18-43435678-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435678
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435678
    reference: chr 18
allele count: 2
allele frequency: 1.796816041973623e-5
allele num: 111308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-26C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-26C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-26C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 14121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

18-43435681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435681
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435681
    reference: chr 18
allele count: 5
allele frequency: 4.507997187009756e-5
allele num: 110914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-29C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-29C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-29C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1682
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 577
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

18-43435681-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435681
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435681
    reference: chr 18
allele count: 1
allele frequency: 9.01599437401951e-6
allele num: 110914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-29C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-29C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-29C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  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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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: 24209
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  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
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

18-43435687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435687
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435687
    reference: chr 18
allele count: 1
allele frequency: 9.202510444849355e-6
allele num: 108666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-35C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-35C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-35C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.25e1
  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
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 2.25e1
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-43435692-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435692
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435692
    reference: chr 18
allele count: 2
allele frequency: 1.872133295890667e-5
allele num: 106830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-40A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-40A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-40A>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

18-43435694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43435694
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43435694
    reference: chr 18
allele count: 1
allele frequency: 9.458948164964056e-6
allele num: 105720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1220-42T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7443-42T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.303-42T>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
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: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

18-43437770-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437770
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437770
    reference: chr 18
allele count: 68
allele frequency: 5.654791604297641e-4
allele num: 120252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+48A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+48A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4269A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+48A>T
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24746
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9084
  bin: 6.75e1
  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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genotype quality: GenotypeQuality
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  bin: 4.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

18-43437778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437778
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437778
    reference: chr 18
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4261C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+40C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+40C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+40C>A
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  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
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

18-43437780-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437780
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437780
    reference: chr 18
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+38G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4259G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+38G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+38G>C
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-43437791-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437791
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437789
    reference: chr 18
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3207_*3208delGT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4246_4247delGT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1414_*1415delGT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+25_1219+26delGT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+25_302+26delGT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1779_*1780delGT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+25_7442+26delGT
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: AAC
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

18-43437796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437796
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437796
    reference: chr 18
allele count: 2
allele frequency: 1.661212352775055e-5
allele num: 120394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1776A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+22A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1411A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+22A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+22A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4243A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3204A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

18-43437801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437801
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437801
    reference: chr 18
allele count: 7
allele frequency: 5.8115400581154e-5
allele num: 120450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4238C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+17C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+17C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+17C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1771C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3199C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1406C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

18-43437807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437807
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437807
    reference: chr 18
allele count: 3
allele frequency: 2.490163852781513e-5
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1765G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3193G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1400G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4232G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+11G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-43437808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437808
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437808
    reference: chr 18
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4231C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1764C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3192C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1399C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+10C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+10C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+10C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

18-43437809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437809
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437809
    reference: chr 18
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1398G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1763G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7442+9G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4230G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3191G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.302+9G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1219+9G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

18-43437824-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437824
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437824
    reference: chr 18
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7436C>G
  hgvsp: ENSP00000282041.4:p.Ser2479Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3176C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4215C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1213C>G
  hgvsp: ENSP00000467066.1:p.Ser405Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1748C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.296C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1383C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2479Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

18-43437832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437832
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437832
    reference: chr 18
allele count: 17
allele frequency: 1.409361476347598e-4
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7428G>A
  hgvsp: ENST00000282041.5:c.7428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1740G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3168G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4207G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1205G>A
  hgvsp: ENST00000590854.1:c.1205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.288G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1375G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser2476Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

18-43437833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437833
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437833
    reference: chr 18
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.287C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3167C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4206C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7427C>T
  hgvsp: ENSP00000282041.4:p.Ser2476Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1739C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1204C>T
  hgvsp: ENSP00000467066.1:p.Ser402Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1374C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser2476Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

18-43437839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437839
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437839
    reference: chr 18
allele count: 3
allele frequency: 2.486778626966628e-5
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1733G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3161G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1198G>A
  hgvsp: ENSP00000467066.1:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4200G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1368G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7421G>A
  hgvsp: ENSP00000282041.4:p.Arg2474Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.281G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2474Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-43437850-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437850
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437850
    reference: chr 18
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1722T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1187T>A
  hgvsp: ENST00000590854.1:c.1187T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1357T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4189T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7410T>A
  hgvsp: ENST00000282041.5:c.7410T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3150T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.270T>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile2470Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

18-43437852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437852
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437852
    reference: chr 18
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3148A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4187A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1720A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1185A>G
  hgvsp: ENSP00000467066.1:p.Ile396Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1355A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7408A>G
  hgvsp: ENSP00000282041.4:p.Ile2470Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.268A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile2470Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

18-43437853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437853
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437853
    reference: chr 18
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1354A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7407A>G
  hgvsp: ENST00000282041.5:c.7407A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1184A>G
  hgvsp: ENST00000590854.1:c.1184A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3147A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4186A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.267A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1719A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2469Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

18-43437854-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437854
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437854
    reference: chr 18
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7406C>G
  hgvsp: ENSP00000282041.4:p.Ala2469Gly
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4185C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.266C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1183C>G
  hgvsp: ENSP00000467066.1:p.Ala395Gly
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1353C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1718C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3146C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9245
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2469Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

18-43437873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437873
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437873
    reference: chr 18
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3127A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7387A>G
  hgvsp: ENSP00000282041.4:p.Ser2463Gly
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1164A>G
  hgvsp: ENSP00000467066.1:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1699A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.247A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4166A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1334A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser2463Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

18-43437874-GAGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437874
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437871
    reference: chr 18
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1330_*1332delACT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1160_1162delACT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7383_7385delACT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.243_245delACT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1695_*1697delACT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4162_4164delACT
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3123_*3125delACT
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2461_Leu2462delinsSer
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GAGT
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

18-43437881-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437881
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437881
    reference: chr 18
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.239A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4158A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3119A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7379A>C
  hgvsp: ENSP00000282041.4:p.Glu2460Ala
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1156A>C
  hgvsp: ENSP00000467066.1:p.Glu386Ala
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1326A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1691A>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu2460Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

18-43437891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437891
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437891
    reference: chr 18
allele count: 3
allele frequency: 2.48541887592789e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7369G>A
  hgvsp: ENSP00000282041.4:p.Val2457Met
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1316G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.229G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3109G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1146G>A
  hgvsp: ENSP00000467066.1:p.Val383Met
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1681G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4148G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val2457Met
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

18-43437892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437892
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437892
    reference: chr 18
allele count: 51
allele frequency: 4.225282099716657e-4
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7368C>T
  hgvsp: ENST00000282041.5:c.7368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4147C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1315C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.228C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1680C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3108C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1145C>T
  hgvsp: ENST00000590854.1:c.1145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu2456Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-43437893-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437893
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437893
    reference: chr 18
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4146T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1314T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1679T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7367T>G
  hgvsp: ENSP00000282041.4:p.Leu2456Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1144T>G
  hgvsp: ENSP00000467066.1:p.Leu382Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.227T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3107T>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu2456Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

18-43437910-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437910
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437910
    reference: chr 18
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1297T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.210T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7350T>C
  hgvsp: ENST00000282041.5:c.7350T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4129T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3090T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1127T>C
  hgvsp: ENST00000590854.1:c.1127T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1662T>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val2450Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

18-43437916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437916
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437916
    reference: chr 18
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1121C>G
  hgvsp: ENST00000590854.1:c.1121C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1291C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4123C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7344C>G
  hgvsp: ENST00000282041.5:c.7344C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3084C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.204C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1656C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2448Leu
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: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

18-43437926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437926
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437926
    reference: chr 18
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1281G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1646G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4113G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7334G>A
  hgvsp: ENSP00000282041.4:p.Arg2445Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3074G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1111G>A
  hgvsp: ENSP00000467066.1:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.194G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2445Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-43437927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437927
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437927
    reference: chr 18
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1645C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1110C>T
  hgvsp: ENSP00000467066.1:p.Arg371Ter
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7333C>T
  hgvsp: ENSP00000282041.4:p.Arg2445Ter
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.193C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1280C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3073C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4112C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg2445Ter
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-43437949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437949
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437949
    reference: chr 18
allele count: 20
allele frequency: 1.657330372236402e-4
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1258C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1088C>T
  hgvsp: ENST00000590854.1:c.1088C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.171C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1623C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7311C>T
  hgvsp: ENST00000282041.5:c.7311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3051C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4090C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18320
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25676
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser2437Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

18-43437951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437951
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437951
    reference: chr 18
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1256T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3049T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7309T>C
  hgvsp: ENSP00000282041.4:p.Ser2437Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1621T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.169T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1086T>C
  hgvsp: ENSP00000467066.1:p.Ser363Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4088T>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45691
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2437Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

18-43437952-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437952
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437952
    reference: chr 18
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4087C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3048C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1085C>G
  hgvsp: ENSP00000467066.1:p.Asp362Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.168C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7308C>G
  hgvsp: ENSP00000282041.4:p.Asp2436Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1620C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1255C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9199
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp2436Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-43437958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437958
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437958
    reference: chr 18
allele count: 6
allele frequency: 4.972650422675286e-5
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1249G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3042G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1614G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4081G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.162G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7302G>A
  hgvsp: ENST00000282041.5:c.7302G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1079G>A
  hgvsp: ENST00000590854.1:c.1079G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln2434Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

18-43437966-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437966
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437966
    reference: chr 18
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1071A>T
  hgvsp: ENSP00000467066.1:p.Thr358Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1241A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7294A>T
  hgvsp: ENSP00000282041.4:p.Thr2432Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.154A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1606A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4073A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3034A>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr2432Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-43437973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437973
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437973
    reference: chr 18
allele count: 3
allele frequency: 2.486902314477087e-5
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3027C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1064C>T
  hgvsp: ENST00000590854.1:c.1064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7287C>T
  hgvsp: ENST00000282041.5:c.7287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1599C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1234C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.147C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4066C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Leu2429Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

18-43437979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437979
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437979
    reference: chr 18
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1228C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1058C>T
  hgvsp: ENST00000590854.1:c.1058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1593C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3021C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.141C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4060C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7281C>T
  hgvsp: ENST00000282041.5:c.7281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu2427Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-43437981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437981
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437981
    reference: chr 18
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1056C>T
  hgvsp: ENSP00000467066.1:p.Leu353Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1226C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1591C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.139C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7279C>T
  hgvsp: ENSP00000282041.4:p.Leu2427Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4058C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3019C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2427Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

18-43437982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437982
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437982
    reference: chr 18
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7278G>A
  hgvsp: ENST00000282041.5:c.7278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4057G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3018G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1225G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1055G>A
  hgvsp: ENST00000590854.1:c.1055G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1590G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.138G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45878
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln2426Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

18-43437984-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43437984
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43437984
    reference: chr 18
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1053C>A
  hgvsp: ENSP00000467066.1:p.Gln352Lys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1223C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4055C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.136C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7276C>A
  hgvsp: ENSP00000282041.4:p.Gln2426Lys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1588C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*3016C>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2426Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

18-43438002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438002
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438002
    reference: chr 18
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1570T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.118T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1035T>C
  hgvsp: ENSP00000467066.1:p.Trp346Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1205T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4037T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2998T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7258T>C
  hgvsp: ENSP00000282041.4:p.Trp2420Arg
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp2420Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-43438006-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438006
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438006
    reference: chr 18
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1031T>G
  hgvsp: ENSP00000467066.1:p.Phe344Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7254T>G
  hgvsp: ENSP00000282041.4:p.Phe2418Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.114T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2994T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1201T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1566T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4033T>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe2418Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/18-43438027-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438027
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438027
    reference: chr 18
allele count: 1
allele frequency: 8.38799510141086e-6
allele num: 119218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1180G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2973G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1010G>T
  hgvsp: ENST00000590854.1:c.1010G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1545G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7233G>T
  hgvsp: ENST00000282041.5:c.7233G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4012G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.93G>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val2411Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

18-43438029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438029
    reference: chr 18
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1178G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1543G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.91G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1008G>A
  hgvsp: ENSP00000467066.1:p.Val337Met
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2971G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7231G>A
  hgvsp: ENSP00000282041.4:p.Val2411Met
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4010G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val2411Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

18-43438030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438030
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438030
    reference: chr 18
allele count: 3
allele frequency: 2.54220052877771e-5
allele num: 118008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.90C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1007C>T
  hgvsp: ENST00000590854.1:c.1007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1542C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7230C>T
  hgvsp: ENST00000282041.5:c.7230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1177C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4009C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2970C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2410Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-43438034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438034
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438034
    reference: chr 18
allele count: 1
allele frequency: 8.516001566944289e-6
allele num: 117426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7227-1G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1539-1G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.87-1G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4006-1G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1174-1G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2967-1G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1004-1G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
hgvs: c.7227-1G>A
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-43438044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438044
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438044
    reference: chr 18
allele count: 2
allele frequency: 1.825417107809134e-5
allele num: 109564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1004-11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7227-11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1539-11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4006-11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2967-11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.87-11G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1174-11G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18973
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

18-43438047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438047
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438047
    reference: chr 18
allele count: 1
allele frequency: 9.391964235400191e-6
allele num: 106474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4006-14G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2967-14G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1004-14G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7227-14G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1539-14G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.87-14G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1174-14G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

18-43438048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438048
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438048
    reference: chr 18
allele count: 3
allele frequency: 2.844302861368679e-5
allele num: 105474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.7227-15C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.*2967-15C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587262
  gene symbol: EPG5
  hgvsc: ENST00000587262.1:n.87-15C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1539-15C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.4006-15C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467066
  ensembl transcript: ENST00000590854
  gene symbol: EPG5
  hgvsc: ENST00000590854.1:c.1004-15C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.*1174-15C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

18-43438057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43438057
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43438057
    reference: chr 18
allele count: 1
allele frequency: 1.004802958139909e-5
allele num: 99522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.*1539-24A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.150818058801821e-5
allele num: 16258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

DP
type: SiteQuality
SIO_000300: 1.457721e6

VQSLOD
type: SiteQuality
SIO_000300: -2.103e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.032e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.045150501672241e-4
allele num: 9568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.188e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 1.45874e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.381352961794602e-4
allele num: 11412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.027545884693047e-5
allele num: 66362
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

QD
type: SiteQuality
SIO_000300: 1.052e1

DP
type: SiteQuality
SIO_000300: 1.45874e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 1.2224e1

QD
type: SiteQuality
SIO_000300: 1.703e1

MQRankSum
type: SiteQuality
SIO_000300: -1.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -1.987e0

DP
type: SiteQuality
SIO_000300: 1.463959e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 47
allele frequency: 4.874507363617507e-3
allele num: 9642
num of homozygotes: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510057428064584e-5
allele num: 66518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221001221001221e-4
allele num: 16380
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: 5.16e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.466063e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.62e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.636e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.405e0

DP
type: SiteQuality
SIO_000300: 1.464623e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.042e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.981e1

DP
type: SiteQuality
SIO_000300: 1.464436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.031e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 3.427e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.579e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.464133e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.711e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

DP
type: SiteQuality
SIO_000300: 1.463618e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 1.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203876482272919e-4
allele num: 66452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 5.14e0

DP
type: SiteQuality
SIO_000300: 1.463787e6

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

South Asian
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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
allele num: 8606
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.644e1

MQRankSum
type: SiteQuality
SIO_000300: -2.61e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 7.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.339e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.071253071253071e-4
allele num: 16280
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66340
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Other
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allele count: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.479e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.463302e6

FS
type: SiteQuality
SIO_000300: 2.465e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.054e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.062896501721951e-5
allele num: 66204
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.756543123133673e-4
allele num: 11386
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.044277360066834e-4
allele num: 9576
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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allele num: 892
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.459601e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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African
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.456209e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.049979000419992e-4
allele num: 9524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Other
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East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6576
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Latino
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South 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: 65922
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African
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Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.404e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

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

African
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South Asian
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Latino
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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
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num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.03988326848249e-5
allele num: 65792
num of homozygotes: 0

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

African
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South Asian
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European (Non-Finnish)
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allele frequency: 1.519941634241245e-5
allele num: 65792
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Other
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East Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele num: 6566
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.72382851445663e-4
allele num: 16048
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.441415e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.024e0

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.360513929525506e-5
allele num: 15722
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

FS
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.367578e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.527415143603133e-4
allele num: 10724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

African
type: Population
allele count: 150
allele frequency: 1.636125654450262e-2
allele num: 9168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576889113157563e-5
allele num: 63416
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 1.341658e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.245488770608854e-5
allele num: 61624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15370
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MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 8.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.201793e6

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.591590248266607e-4
allele num: 8942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

FS
type: SiteQuality
SIO_000300: 1.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.448e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.057e-1

DP
type: SiteQuality
SIO_000300: 1.179105e6

MQ
type: SiteQuality
SIO_000300: 5.836e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628664495114006e-5
allele num: 61400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.057e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

QD
type: SiteQuality
SIO_000300: 1.448e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 1.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

DP
type: SiteQuality
SIO_000300: 1.179105e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662068277764851e-5
allele num: 60166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.831e1

FS
type: SiteQuality
SIO_000300: 3.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.975e0

DP
type: SiteQuality
SIO_000300: 1.107027e6

QD
type: SiteQuality
SIO_000300: 1.374e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59128
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.376e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.074e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.645e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 1.062069e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 68

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Latino
type: Population
allele count: 55
allele frequency: 4.761904761904762e-3
allele num: 11550
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.654832109760501e-4
allele num: 66472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 1.742916e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.498e-1

FS
type: SiteQuality
SIO_000300: 2.304e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.735e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16440
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.756096e6

MQ
type: SiteQuality
SIO_000300: 5.992e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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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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
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num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.006524157421605e-5
allele num: 66522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -8.97e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11554
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.051682692307692e-4
allele num: 66560
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.9e-1

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.073120369245719e-5
allele num: 16466
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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allele frequency: 0.0e0
allele num: 896
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.506e0

MQRankSum
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SIO_000300: -8.57e-1

DP
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SIO_000300: 1.760862e6

ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.262e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9768
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: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
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

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 9.299999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 9.32e0

DP
type: SiteQuality
SIO_000300: 1.761035e6

VQSLOD
type: SiteQuality
SIO_000300: -2.188e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
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South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.096e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.83e-2

InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 1.761224e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.763218e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.365e0

MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5004500450045e-5
allele num: 66660
num of homozygotes: 0

European (Finnish)
type: Population
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: 8598
num of homozygotes: 0

Latino
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allele count: 14
allele frequency: 1.210235131396957e-3
allele num: 11568
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9782
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South Asian
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allele frequency: 0.0e0
allele num: 16502
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.775e0

BaseQRankSum
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SIO_000300: -2.1e0

ClippingRankSum
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SIO_000300: -4.53e-1

QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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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
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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 (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 2.044153720359771e-4
allele num: 9784
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European (Non-Finnish)
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allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

East Asian
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Latino
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South Asian
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11570
num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
allele count: 0
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
allele num: 66686
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East Asian
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African
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allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.764546e6

VQSLOD
type: SiteQuality
SIO_000300: 9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 5.494e0

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

FS
type: SiteQuality
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MQ
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SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.284e1

DP
type: SiteQuality
SIO_000300: 1.764604e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.927e1

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

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.764701e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.16e0

VQSLOD
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SIO_000300: 1.39e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

European (Finnish)
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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: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

DP
type: SiteQuality
SIO_000300: 1.764782e6

FS
type: SiteQuality
SIO_000300: 2.293e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.483e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.038e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

DP
type: SiteQuality
SIO_000300: 1.765321e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.873e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.765343e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.666e1

QD
type: SiteQuality
SIO_000300: 2.171e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 51

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

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

East Asian
type: Population
allele count: 50
allele frequency: 5.804504295333178e-3
allele num: 8614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9788
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
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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

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
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SIO_000300: 5.9e1

BaseQRankSum
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SIO_000300: 2.48e0

ReadPosRankSum
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SIO_000300: 2.13e-1

ClippingRankSum
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SIO_000300: -1.522e0

VQSLOD
type: SiteQuality
SIO_000300: -5.934e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 1.764394e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -7.27e-1

DP
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ReadPosRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.763867e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

DP
type: SiteQuality
SIO_000300: 1.763706e6

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 2.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 2.095e1

VQSLOD
type: SiteQuality
SIO_000300: -2.402e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.69889345368399e-4
allele num: 66694
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.762628e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 1.761917e6

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
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SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

Other
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allele num: 900
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.761735e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.03e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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African
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.498050506868214e-5
allele num: 66684
num of homozygotes: 0

QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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African
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Other
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InbreedingCoeff
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SIO_000300: 4.7e-3

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

East Asian
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allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

DP
type: SiteQuality
SIO_000300: 1.760849e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 172
bin: 8.75e1
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GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

FS
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.75994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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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: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.607e0

FS
type: SiteQuality
SIO_000300: 4.816e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.141e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 1.759932e6

VQSLOD
type: SiteQuality
SIO_000300: -3.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 4.882e0

VQSLOD
type: SiteQuality
SIO_000300: -3.727e0

QD
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.759639e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.808e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 1.161e0

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.756579e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.612e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.75486e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51372952680815e-5
allele num: 66062
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516530178950561e-5
allele num: 65940
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
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Other
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.528023959415684e-5
allele num: 65444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.893632159373888e-5
allele num: 11244
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6468
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South Asian
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allele frequency: 6.273525721455458e-5
allele num: 15940
num of homozygotes: 0

East Asian
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QD
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534636751480924e-5
allele num: 65162
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.268e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

FS
type: SiteQuality
SIO_000300: 6.778e0

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.04e1

DP
type: SiteQuality
SIO_000300: 1.687335e6

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4754
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.287202919036192e-5
allele num: 60842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

DP
type: SiteQuality
SIO_000300: 1.44441e6

QD
type: SiteQuality
SIO_000300: 1.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

GenotypeQuality
all individuals: 17742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.014816318246397e-4
allele num: 9854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

QD
type: SiteQuality
SIO_000300: 3.402e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.320702e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

GenotypeQuality
all individuals: 297
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.115961800818554e-5
allele num: 58640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 3.426e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.211e0

QD
type: SiteQuality
SIO_000300: 8.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.277935e6