17-43530628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43530628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43530628
    reference: chr 17
allele count: 16
allele frequency: 1.050558108995404e-3
allele num: 15230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1104+93C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2057+93C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580205
  gene symbol: PLEKHM1
  hgvsc: ENST00000580205.1:n.2061C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2497+93C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000582035
  gene symbol: PLEKHM1
  hgvsc: ENST00000582035.1:n.1510C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236234
  ensembl transcript: ENST00000433601
  gene symbol: AC091132.1
  hgvsc: ENST00000433601.1:n.245+174G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2230+93C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2057+93C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38248
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34140
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.75e1
  variant carriers: 15
num of homozygotes: 1
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-43522797-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522797
    reference: chr 17
allele count: 1
allele frequency: 8.562230289745873e-6
allele num: 116792
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+39C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+39C>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-43522798-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522798
    reference: chr 17
allele count: 1
allele frequency: 8.554466286848364e-6
allele num: 116898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+38A>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+38A>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-43522800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522800
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522800
    reference: chr 17
allele count: 60
allele frequency: 5.137426149499101e-4
allele num: 116790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+36G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+36G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21028
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

17-43522801-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522801
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522801
    reference: chr 17
allele count: 7
allele frequency: 5.991304050121538e-5
allele num: 116836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+35C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+35C>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21226
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24904
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-43522803-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522803
    reference: chr 17
allele count: 1
allele frequency: 8.552417768503155e-6
allele num: 116926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+33C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+33C>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7278
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-43522810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522810
    reference: chr 17
allele count: 1
allele frequency: 8.536356341659126e-6
allele num: 117146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+26G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+26G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

17-43522812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522812
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522812
    reference: chr 17
allele count: 1254
allele frequency: 1.070495637772959e-2
allele num: 117142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+24G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+24G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 2.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 21788
  bin: 2.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 3.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 26047
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 4
num of homozygotes: 13
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-43522813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522813
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522813
    reference: chr 17
allele count: 231
allele frequency: 1.973886591243122e-3
allele num: 117028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+23C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+23C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 21712
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 14227
  bin: 2.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 26622
  bin: 6.25e1
  variant carriers: 11
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/17-43522818-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522818
    reference: chr 17
allele count: 1
allele frequency: 8.514261387824607e-6
allele num: 117450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+18G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+18G>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22231
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-43522819-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522819
    reference: chr 17
allele count: 2
allele frequency: 1.701866948042002e-5
allele num: 117518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+17T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+17T>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22318
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

17-43522820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522820
    reference: chr 17
allele count: 2
allele frequency: 1.702011777921503e-5
allele num: 117508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+16G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+16G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7561
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

17-43522821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522821
    reference: chr 17
allele count: 2
allele frequency: 1.701606316362646e-5
allele num: 117536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+15C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+15C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14800
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-43522823-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522823
    reference: chr 17
allele count: 1
allele frequency: 8.50210001870462e-6
allele num: 117618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+13T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+13T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28654
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

17-43522827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522827
    reference: chr 17
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+9C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+9C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28800
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-43522833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522833
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522833
    reference: chr 17
allele count: 13
allele frequency: 1.108496197005355e-4
allele num: 117276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1444+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.64+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.38+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2837+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.339+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2397+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.395+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2397+3G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2570+3G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15371
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22838
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2837+3G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-43522858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522858
    reference: chr 17
allele count: 4
allele frequency: 3.375926269770268e-5
allele num: 118486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2548G>A
  hgvsp: ENSP00000414352.2:p.Ala850Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.42G>A
  hgvsp: ENSP00000467695.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.373G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2815G>A
  hgvsp: ENSP00000389913.3:p.Ala939Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2375G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2375G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.317G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1422G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.16G>A
  hgvsp: ENSP00000466589.1:p.Ala6Thr
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala939Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-43522859-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522859
    reference: chr 17
allele count: 4
allele frequency: 3.374616137414369e-5
allele num: 118532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1421C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.15C>A
  hgvsp: ENST00000590991.1:c.15C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2814C>A
  hgvsp: ENST00000430334.3:c.2814C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2547C>A
  hgvsp: ENST00000421073.2:c.2547C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2374C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.41C>A
  hgvsp: ENST00000591580.1:c.41C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.372C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.316C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2374C>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly938Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-43522862-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522862
    reference: chr 17
allele count: 1
allele frequency: 8.425593583067927e-6
allele num: 118686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.369T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2371T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.12T>G
  hgvsp: ENSP00000466589.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.38T>G
  hgvsp: ENSP00000467695.1:p.Ser13Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2811T>G
  hgvsp: ENSP00000389913.3:p.Ser937Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1418T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2544T>G
  hgvsp: ENSP00000414352.2:p.Ser848Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.313T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2371T>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser937Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-43522862-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522862
    reference: chr 17
allele count: 2
allele frequency: 1.685118716613585e-5
allele num: 118686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2371T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.369T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.12T>A
  hgvsp: ENSP00000466589.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.313T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1418T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.38T>A
  hgvsp: ENSP00000467695.1:p.Ser13Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2811T>A
  hgvsp: ENSP00000389913.3:p.Ser937Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2544T>A
  hgvsp: ENSP00000414352.2:p.Ser848Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2371T>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser937Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-43522866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522866
    reference: chr 17
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2807G>A
  hgvsp: ENSP00000389913.3:p.Arg936Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.8G>A
  hgvsp: ENSP00000466589.1:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.309G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.365G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2367G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1414G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2540G>A
  hgvsp: ENSP00000414352.2:p.Arg847Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2367G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.34G>A
  hgvsp: ENSP00000467695.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg936Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-43522867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522867
    reference: chr 17
allele count: 3
allele frequency: 2.521728897332011e-5
allele num: 118966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.33C>T
  hgvsp: ENSP00000467695.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.7C>T
  hgvsp: ENSP00000466589.1:p.Arg3Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.308C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2366C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2366C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1413C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2806C>T
  hgvsp: ENSP00000389913.3:p.Arg936Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2539C>T
  hgvsp: ENSP00000414352.2:p.Arg847Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.364C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33693
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg936Trp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-43522872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522872
    reference: chr 17
allele count: 4
allele frequency: 3.356380479291133e-5
allele num: 119176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2801T>C
  hgvsp: ENSP00000389913.3:p.Leu934Pro
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2361T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1408T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2361T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.28T>C
  hgvsp: ENSP00000467695.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2534T>C
  hgvsp: ENSP00000414352.2:p.Leu845Pro
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000466589
  ensembl transcript: ENST00000590991
  gene symbol: PLEKHM1
  hgvsc: ENST00000590991.1:c.2T>C
  hgvsp: ENSP00000466589.1:p.Leu1?
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.303T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.359T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-43522874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522874
    reference: chr 17
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2359C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.357C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1406C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000467695
  ensembl transcript: ENST00000591580
  gene symbol: PLEKHM1
  hgvsc: ENST00000591580.1:c.26C>T
  hgvsp: ENST00000591580.1:c.26C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2532C>T
  hgvsp: ENST00000421073.2:c.2532C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2359C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.301C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2799C>T
  hgvsp: ENST00000430334.3:c.2799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly933Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

17-43522903-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522903
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522903
    reference: chr 17
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.328C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1377C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2770C>A
  hgvsp: ENSP00000389913.3:p.Gln924Lys
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2330C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.272C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2503C>A
  hgvsp: ENSP00000414352.2:p.Gln835Lys
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2330C>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln924Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

17-43522908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522908
    reference: chr 17
allele count: 4
allele frequency: 3.32529719843711e-5
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2325G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2498G>A
  hgvsp: ENSP00000414352.2:p.Arg833Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1372G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2765G>A
  hgvsp: ENSP00000389913.3:p.Arg922Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2325G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.323G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.267G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg922Gln
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-43522909-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522909
    reference: chr 17
allele count: 20
allele frequency: 1.662206412792341e-4
allele num: 120322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1371C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.266C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2497C>A
  hgvsp: ENST00000421073.2:c.2497C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2324C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2764C>A
  hgvsp: ENST00000430334.3:c.2764C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.322C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2324C>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg922Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-43522920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522920
    reference: chr 17
allele count: 2
allele frequency: 1.663174001264012e-5
allele num: 120252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2753T>C
  hgvsp: ENSP00000389913.3:p.Ile918Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1360T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2486T>C
  hgvsp: ENSP00000414352.2:p.Ile829Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.311T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2313T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.255T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2313T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile918Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-43522923-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522923
    reference: chr 17
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2483T>G
  hgvsp: ENSP00000414352.2:p.Leu828Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2310T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.308T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1357T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.252T>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2750T>G
  hgvsp: ENSP00000389913.3:p.Leu917Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2310T>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu917Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-43522925-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522925
    reference: chr 17
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2308C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2308C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2481C>A
  hgvsp: ENSP00000414352.2:p.His827Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2748C>A
  hgvsp: ENSP00000389913.3:p.His916Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.250C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1355C>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.306C>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His916Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-43522932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522932
    reference: chr 17
allele count: 8
allele frequency: 6.664334149714266e-5
allele num: 120042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.299G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.243G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2301G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1348G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2474G>A
  hgvsp: ENSP00000414352.2:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2741G>A
  hgvsp: ENSP00000389913.3:p.Arg914Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2301G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg914Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/17-43522932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522932
    reference: chr 17
allele count: 1
allele frequency: 8.330417687142833e-6
allele num: 120042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.299G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1348G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2474G>T
  hgvsp: ENSP00000414352.2:p.Arg825Leu
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2741G>T
  hgvsp: ENSP00000389913.3:p.Arg914Leu
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2301G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.243G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2301G>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg914Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

17-43522933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522933
    reference: chr 17
allele count: 1
allele frequency: 8.349615082744685e-6
allele num: 119766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1347C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2300C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.298C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2740C>T
  hgvsp: ENSP00000389913.3:p.Arg914Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2473C>T
  hgvsp: ENSP00000414352.2:p.Arg825Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.242C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2300C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg914Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-43522940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522940
    reference: chr 17
allele count: 1
allele frequency: 8.368340892734607e-6
allele num: 119498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2466T>C
  hgvsp: ENST00000421073.2:c.2466T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1340T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2733T>C
  hgvsp: ENST00000430334.3:c.2733T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.235T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2293T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2293T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.291T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His911His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-43522945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522945
    reference: chr 17
allele count: 22
allele frequency: 1.850169879234366e-4
allele num: 118908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2728G>A
  hgvsp: ENSP00000389913.3:p.Glu910Lys
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1335G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.286G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2288G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2288G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2461G>A
  hgvsp: ENSP00000414352.2:p.Glu821Lys
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.230G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu910Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-43522946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522946
    reference: chr 17
allele count: 107
allele frequency: 8.998099466841583e-4
allele num: 118914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1334C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.229C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2727C>T
  hgvsp: ENST00000430334.3:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2287C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.285C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2460C>T
  hgvsp: ENST00000421073.2:c.2460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2287C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24260
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34253
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr909Tyr
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-43522949-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522949
    reference: chr 17
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.226G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2284G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1331G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2457G>T
  hgvsp: ENST00000421073.2:c.2457G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2284G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.282G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2724G>T
  hgvsp: ENST00000430334.3:c.2724G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu908Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-43522949-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522949
    reference: chr 17
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2457G>C
  hgvsp: ENST00000421073.2:c.2457G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2284G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1331G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2724G>C
  hgvsp: ENST00000430334.3:c.2724G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2284G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.282G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.226G>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu908Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-43522955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522955
    reference: chr 17
allele count: 3
allele frequency: 2.530791294077948e-5
allele num: 118540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2278G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2451G>A
  hgvsp: ENST00000421073.2:c.2451G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2278G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.276G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2718G>A
  hgvsp: ENST00000430334.3:c.2718G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1325G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.220G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala906Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-43522956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522956
    reference: chr 17
allele count: 2
allele frequency: 1.687365010799136e-5
allele num: 118528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2277C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.275C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1324C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2277C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2717C>T
  hgvsp: ENSP00000389913.3:p.Ala906Val
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2450C>T
  hgvsp: ENSP00000414352.2:p.Ala817Val
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.219C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala906Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-43522962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522962
    reference: chr 17
allele count: 1
allele frequency: 8.442665856170744e-6
allele num: 118446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.213T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2271T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.269T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1318T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2444T>C
  hgvsp: ENSP00000414352.2:p.Val815Ala
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2271T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2711T>C
  hgvsp: ENSP00000389913.3:p.Val904Ala
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val904Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-43522968-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522968
    reference: chr 17
allele count: 104
allele frequency: 8.782893625646049e-4
allele num: 118412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.207A>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2265A>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2438A>T
  hgvsp: ENSP00000414352.2:p.Gln813Leu
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2705A>T
  hgvsp: ENSP00000389913.3:p.Gln902Leu
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1312A>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2265A>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.263A>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln902Leu
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-43522968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522968
    reference: chr 17
allele count: 1
allele frequency: 8.445090024659663e-6
allele num: 118412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2265A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.207A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2438A>G
  hgvsp: ENSP00000414352.2:p.Gln813Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2705A>G
  hgvsp: ENSP00000389913.3:p.Gln902Arg
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.263A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2265A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1312A>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln902Arg
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: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-43522974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522974
    reference: chr 17
allele count: 1
allele frequency: 8.446088616361763e-6
allele num: 118398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.257A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.201A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1306A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2699A>G
  hgvsp: ENSP00000389913.3:p.Asn900Ser
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2432A>G
  hgvsp: ENSP00000414352.2:p.Asn811Ser
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2259A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2259A>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn900Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

17-43522982-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522982
    reference: chr 17
allele count: 6
allele frequency: 5.068937550689376e-5
allele num: 118368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2424C>G
  hgvsp: ENST00000421073.2:c.2424C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.193C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2251C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2251C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1298C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.249C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2691C>G
  hgvsp: ENST00000430334.3:c.2691C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro897Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-43522985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522985
    reference: chr 17
allele count: 5
allele frequency: 4.224757076468103e-5
allele num: 118350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2421G>A
  hgvsp: ENST00000421073.2:c.2421G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2248G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.190G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2688G>A
  hgvsp: ENST00000430334.3:c.2688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1295G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.246G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2248G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln896Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-43522992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522992
    reference: chr 17
allele count: 1
allele frequency: 8.450656616019065e-6
allele num: 118334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2681G>A
  hgvsp: ENSP00000389913.3:p.Arg894Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2414G>A
  hgvsp: ENSP00000414352.2:p.Arg805Gln
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1288G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.239G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.183G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2241G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2241G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8170
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg894Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-43522993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522993
    reference: chr 17
allele count: 3
allele frequency: 2.53519698480572e-5
allele num: 118334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.238C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2413C>T
  hgvsp: ENSP00000414352.2:p.Arg805Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2240C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2680C>T
  hgvsp: ENSP00000389913.3:p.Arg894Trp
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.182C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1287C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2240C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg894Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

17-43522994-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522994
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522994
    reference: chr 17
allele count: 1
allele frequency: 8.450370971285639e-6
allele num: 118338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.237C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2679C>G
  hgvsp: ENSP00000389913.3:p.Ile893Met
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2412C>G
  hgvsp: ENSP00000414352.2:p.Ile804Met
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2239C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1286C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2239C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.181C>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile893Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-43522996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522996
    reference: chr 17
allele count: 6
allele frequency: 5.070393969611439e-5
allele num: 118334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1284A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.179A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2677A>G
  hgvsp: ENSP00000389913.3:p.Ile893Val
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2237A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2410A>G
  hgvsp: ENSP00000414352.2:p.Ile804Val
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2237A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.235A>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile893Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-43530661-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43530661
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43530661
    reference: chr 17
allele count: 2
allele frequency: 8.486803021301876e-5
allele num: 23566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580205
  gene symbol: PLEKHM1
  hgvsc: ENST00000580205.1:n.2028T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236234
  ensembl transcript: ENST00000433601
  gene symbol: AC091132.1
  hgvsc: ENST00000433601.1:n.245+207A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000582035
  gene symbol: PLEKHM1
  hgvsc: ENST00000582035.1:n.1477T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2497+60T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2057+60T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2230+60T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2057+60T>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1104+60T>A
  variant of: http://identifiers.org/hgnc/29017
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

17-43522997-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43522997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43522997
    reference: chr 17
allele count: 1
allele frequency: 8.450228156160216e-6
allele num: 118340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2236G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2409G>C
  hgvsp: ENSP00000414352.2:p.Gln803His
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1283G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2236G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.234G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2676G>C
  hgvsp: ENSP00000389913.3:p.Gln892His
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.178G>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln892His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-43523017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523017
    reference: chr 17
allele count: 2
allele frequency: 1.692706129288894e-5
allele num: 118154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2216G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1263G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2389G>A
  hgvsp: ENSP00000414352.2:p.Ala797Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.158G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.214G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2656G>A
  hgvsp: ENSP00000389913.3:p.Ala886Thr
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2216G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala886Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-43523020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523020
    reference: chr 17
allele count: 1
allele frequency: 8.466970348669839e-6
allele num: 118106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.211C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2653C>T
  hgvsp: ENSP00000389913.3:p.Gln885Ter
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2213C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2213C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.155C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1260C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2386C>T
  hgvsp: ENSP00000414352.2:p.Gln796Ter
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln885Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-43523035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523035
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523035
    reference: chr 17
allele count: 1
allele frequency: 8.490261669864665e-6
allele num: 117782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2377-6C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2204-6C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.202-6C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2644-6C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2204-6C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1251-6C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.146-6C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2644-6C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-43523038-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523038
    reference: chr 17
allele count: 1
allele frequency: 8.493001766544367e-6
allele num: 117744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2204-9T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2377-9T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.146-9T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2644-9T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.202-9T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2204-9T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1251-9T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-43523039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523039
    reference: chr 17
allele count: 1
allele frequency: 8.490982576503753e-6
allele num: 117772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.202-10G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.146-10G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2204-10G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2644-10G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2377-10G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1251-10G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2204-10G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-43523042-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523042
    reference: chr 17
allele count: 1
allele frequency: 8.499787505312367e-6
allele num: 117650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2204-13G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2377-13G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2204-13G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1251-13G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.202-13G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.146-13G>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2644-13G>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

17-43523049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523049
    reference: chr 17
allele count: 4
allele frequency: 3.403733896084004e-5
allele num: 117518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.202-20A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2204-20A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2377-20A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.146-20A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2204-20A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1251-20A>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2644-20A>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-43523069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43523069
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43523069
    reference: chr 17
allele count: 1
allele frequency: 8.550662676357418e-6
allele num: 116950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2204-40G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000583150
  gene symbol: PLEKHM1
  hgvsc: ENST00000583150.1:n.202-40G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl transcript: ENST00000580404
  gene symbol: PLEKHM1
  hgvsc: ENST00000580404.1:n.146-40G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2644-40G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2204-40G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1251-40G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2377-40G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-43527945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527945
    reference: chr 17
allele count: 24
allele frequency: 2.101723413198823e-4
allele num: 114192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2643+39G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2376+39G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2203+39G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2203+39G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1250+39G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25920
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-43527955-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527954
    reference: chr 17
allele count: 1
allele frequency: 8.650219715580775e-6
allele num: 115604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2203+28delG
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1250+28delG
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2643+28delG
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2203+28delG
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2376+28delG
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: GC
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-43527957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527957
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527957
    reference: chr 17
allele count: 1
allele frequency: 8.620689655172414e-6
allele num: 116000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2203+27T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2203+27T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2376+27T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2643+27T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1250+27T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-43527969-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527969
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527969
    reference: chr 17
allele count: 1
allele frequency: 8.453228287883143e-6
allele num: 118298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2376+15C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1250+15C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2203+15C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2203+15C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2643+15C>G
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-43527984-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527984
    reference: chr 17
allele count: 1
allele frequency: 8.443949066099234e-6
allele num: 118428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2203G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2643G>T
  hgvsp: ENST00000430334.3:c.2643G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2376G>T
  hgvsp: ENST00000421073.2:c.2376G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1250G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2203G>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50819
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genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2643G>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-43527984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527984
    reference: chr 17
allele count: 2
allele frequency: 1.688789813219847e-5
allele num: 118428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2376G>A
  hgvsp: ENST00000421073.2:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2643G>A
  hgvsp: ENST00000430334.3:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2203G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1250G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2203G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2643G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-43527988-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527988
    reference: chr 17
allele count: 1
allele frequency: 8.460952703274388e-6
allele num: 118190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1246G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2199G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2639G>T
  hgvsp: ENSP00000389913.3:p.Arg880Leu
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2199G>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2372G>T
  hgvsp: ENSP00000414352.2:p.Arg791Leu
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34840
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 853
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 134
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4939
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg880Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-43527988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527988
    reference: chr 17
allele count: 9
allele frequency: 7.61485743294695e-5
allele num: 118190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2372G>A
  hgvsp: ENSP00000414352.2:p.Arg791His
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2199G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1246G>A
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2639G>A
  hgvsp: ENSP00000389913.3:p.Arg880His
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2199G>A
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg880His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-43527989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527989
    reference: chr 17
allele count: 3
allele frequency: 2.541037759821111e-5
allele num: 118062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2198C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2198C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2638C>T
  hgvsp: ENSP00000389913.3:p.Arg880Cys
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2371C>T
  hgvsp: ENSP00000414352.2:p.Arg791Cys
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1245C>T
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg880Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

17-43527989-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527989
    reference: chr 17
allele count: 2
allele frequency: 1.694025173214074e-5
allele num: 118062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2371C>G
  hgvsp: ENSP00000414352.2:p.Arg791Gly
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2198C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2198C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1245C>G
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2638C>G
  hgvsp: ENSP00000389913.3:p.Arg880Gly
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg880Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-43527993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43527993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43527993
    reference: chr 17
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2194C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1241C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000414352
  ensembl transcript: ENST00000421073
  gene symbol: PLEKHM1
  hgvsc: ENST00000421073.2:c.2367C>T
  hgvsp: ENST00000421073.2:c.2367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2194C>T
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000389913
  ensembl transcript: ENST00000430334
  gene symbol: PLEKHM1
  hgvsc: ENST00000430334.3:c.2634C>T
  hgvsp: ENST00000430334.3:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr878Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-43528026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43528026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 43528026
    reference: chr 17
allele count: 1
allele frequency: 1.029654036243822e-5
allele num: 97120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000394344
  ensembl transcript: ENST00000446609
  gene symbol: PLEKHM1
  hgvsc: ENST00000446609.2:c.*2161T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462160
  ensembl transcript: ENST00000581448
  gene symbol: PLEKHM1
  hgvsc: ENST00000581448.1:c.*1208T>C
  variant of: http://identifiers.org/hgnc/29017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000225190
  ensembl protein: ENSP00000462282
  ensembl transcript: ENST00000579197
  gene symbol: PLEKHM1
  hgvsc: ENST00000579197.1:c.*2161T>C
  variant of: http://identifiers.org/hgnc/29017
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
hgvs: p.Ile867Ile
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 942
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.690507152145644e-3
allele num: 7690
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.810975609756098e-4
allele num: 5248
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.144654088050315e-3
allele num: 318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.33e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 3.822e1

DP
type: SiteQuality
SIO_000300: 3.22331e5

GenotypeQuality
all individuals: 1371
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.197322756569162e-5
allele num: 16136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.456e1

MQ
type: SiteQuality
SIO_000300: 4.028e1

DP
type: SiteQuality
SIO_000300: 1.517179e6

VQSLOD
type: SiteQuality
SIO_000300: -2.587e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.514e0

FS
type: SiteQuality
SIO_000300: 3.784e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.939e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24348
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567594682718836e-5
allele num: 63792
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.398e1

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.518725e6

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4494
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 1154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24161
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.568775100401606e-4
allele num: 63744
num of homozygotes: 0

African
type: Population
allele count: 39
allele frequency: 3.836317135549872e-3
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.307966706302021e-3
allele num: 8410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.802e1

FS
type: SiteQuality
SIO_000300: 1.158e0

VQSLOD
type: SiteQuality
SIO_000300: -2.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.52365e6

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3647
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4457
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567938787669729e-5
allele num: 63778
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.445634416409512e-4
allele num: 11018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -3.719e0

MQ
type: SiteQuality
SIO_000300: 3.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

QD
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 1.527798e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

GenotypeQuality
all individuals: 1542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63824
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.601e0

DP
type: SiteQuality
SIO_000300: 1.531587e6

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 3.984e1

QD
type: SiteQuality
SIO_000300: 1.223e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 671
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4455
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563477173233271e-5
allele num: 63960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

DP
type: SiteQuality
SIO_000300: 1.546878e6

QD
type: SiteQuality
SIO_000300: 4.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 3.731e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 1916
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2708
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3642
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7221
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5247
bin: 9.75e1
variant carriers: 1187

GenotypeQuality
all individuals: 1123
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 845
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2527
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 9.25e1
variant carriers: 8

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.657828085425721e-4
allele num: 63962
num of homozygotes: 0

Latino
type: Population
allele count: 50
allele frequency: 4.516711833785004e-3
allele num: 11070
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.713330857779428e-4
allele num: 16158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 1175
allele frequency: 1.157863618446985e-1
allele num: 10148
num of homozygotes: 13

Other
type: Population
allele count: 6
allele frequency: 6.756756756756757e-3
allele num: 888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.051e0

VQSLOD
type: SiteQuality
SIO_000300: -2.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

MQ
type: SiteQuality
SIO_000300: 3.627e1

DP
type: SiteQuality
SIO_000300: 1.562011e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

QD
type: SiteQuality
SIO_000300: 9.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

GenotypeQuality
all individuals: 2574
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 7367
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1721
bin: 3.75e1
variant carriers: 14

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3714
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2767
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 4188
bin: 9.75e1
variant carriers: 105

GenotypeQuality
all individuals: 2782
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1520
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 685
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 957
bin: 4.75e1
variant carriers: 6

Latino
type: Population
allele count: 8
allele frequency: 7.233273056057866e-4
allele num: 11060
num of homozygotes: 0

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

African
type: Population
allele count: 217
allele frequency: 2.15320500099226e-2
allele num: 10078
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.383797309978104e-5
allele num: 63940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.603e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.351e0

QD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.562e0

DP
type: SiteQuality
SIO_000300: 1.558647e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.252e0

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

GenotypeQuality
all individuals: 475
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559332605644784e-5
allele num: 64130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

QD
type: SiteQuality
SIO_000300: 6.63e0

DP
type: SiteQuality
SIO_000300: 1.563607e6

FS
type: SiteQuality
SIO_000300: 4.075e0

VQSLOD
type: SiteQuality
SIO_000300: -3.657e0

MQ
type: SiteQuality
SIO_000300: 3.844e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7603
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.235483073881888e-4
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 4.576e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 1.564558e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 3.636e1

VQSLOD
type: SiteQuality
SIO_000300: -3.363e0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27861
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.178942165101334e-5
allele num: 16184
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.271e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

DP
type: SiteQuality
SIO_000300: 1.567074e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

FS
type: SiteQuality
SIO_000300: 1.173e0

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 3.634e1

GenotypeQuality
all individuals: 1148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7581
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558117793705204e-5
allele num: 64180
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8833761612967e-5
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

QD
type: SiteQuality
SIO_000300: 7.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 3.499e1

FS
type: SiteQuality
SIO_000300: 5.752e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.569939e6

VQSLOD
type: SiteQuality
SIO_000300: -4.121e0

GenotypeQuality
all individuals: 4127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7626
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1419
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55671098103926e-5
allele num: 64238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 4.129e1

DP
type: SiteQuality
SIO_000300: 1.571855e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -3.972e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.447e0

QD
type: SiteQuality
SIO_000300: 7.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7624
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556178026766262e-5
allele num: 64260
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.16e0

DP
type: SiteQuality
SIO_000300: 1.576179e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.505e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.323e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 3.83e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 2170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.717461903572321e-4
allele num: 64048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.039567611666327e-4
allele num: 9806
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.768e0

DP
type: SiteQuality
SIO_000300: 1.582006e6

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.556e0

FS
type: SiteQuality
SIO_000300: 2.892e0

MQ
type: SiteQuality
SIO_000300: 3.536e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

GenotypeQuality
all individuals: 8043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4130
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
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 count: 2
allele frequency: 3.08842150776738e-5
allele num: 64758
num of homozygotes: 0

Latino
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allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
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Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: -8.46e-1

FS
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.173411118313423e-5
allele num: 64794
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11474
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8608
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 2.03e-1

MQ
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QD
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DP
type: SiteQuality
SIO_000300: 1.632473e6

BaseQRankSum
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SIO_000300: 2.85e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.284e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.112e1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.634339e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

VQSLOD
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SIO_000300: -2.848e0

GenotypeQuality
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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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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 count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64878
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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.634339e6

FS
type: SiteQuality
SIO_000300: 2.284e0

VQSLOD
type: SiteQuality
SIO_000300: -2.848e0

QD
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SIO_000300: 1.112e1

MQ
type: SiteQuality
SIO_000300: 3.678e1

GenotypeQuality
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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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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65012
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.623e1

FS
type: SiteQuality
SIO_000300: 4.643e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.637899e6

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
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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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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 count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.821272462360369e-4
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65060
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 3.741e1

BaseQRankSum
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SIO_000300: 4.71e0

GenotypeQuality
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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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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: 4
allele frequency: 4.644681839294008e-4
allele num: 8612
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65230
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African
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South Asian
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Other
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
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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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European (Non-Finnish)
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allele num: 65912
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South Asian
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.191e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.657738e6

MQ
type: SiteQuality
SIO_000300: 4.493e1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
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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: 7.25e1
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GenotypeQuality
all individuals: 1157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.372e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 4.421e1

DP
type: SiteQuality
SIO_000300: 1.658818e6

FS
type: SiteQuality
SIO_000300: 5.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

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

GenotypeQuality
all individuals: 2639
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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

GenotypeQuality
all individuals: 749
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 19
allele frequency: 1.864207221350079e-3
allele num: 10192
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 1.298e1

MQ
type: SiteQuality
SIO_000300: 4.234e1

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

DP
type: SiteQuality
SIO_000300: 1.660027e6

FS
type: SiteQuality
SIO_000300: 1.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

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: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517496737382015e-5
allele num: 65898
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 4.058e1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: -2.337e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.656097e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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: 1156
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variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 4.256e1

DP
type: SiteQuality
SIO_000300: 1.65369e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.766e0

QD
type: SiteQuality
SIO_000300: 1.131e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 1544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1157
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.653457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.722e0

FS
type: SiteQuality
SIO_000300: 3.118e0

VQSLOD
type: SiteQuality
SIO_000300: -2.258e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 4.25e1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 1209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.216693028348948e-4
allele num: 65752
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.651625e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQ
type: SiteQuality
SIO_000300: 4.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.651625e6

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
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: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52545992616774e-5
allele num: 65554
num of homozygotes: 0

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

South Asian
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allele num: 16510
num of homozygotes: 0

East Asian
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allele num: 8606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.009e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.648949e6

VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.003e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529753709652746e-5
allele num: 65370
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.647051e6

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
all individuals: 2926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.538982424820708e-4
allele num: 64978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

DP
type: SiteQuality
SIO_000300: 1.646559e6

VQSLOD
type: SiteQuality
SIO_000300: -1.291e0

MQ
type: SiteQuality
SIO_000300: 4.186e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.123e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

GenotypeQuality
all individuals: 8165
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 97
allele frequency: 9.932418595125947e-3
allele num: 9766
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.617231507987811e-5
allele num: 64974
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.104e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

MQ
type: SiteQuality
SIO_000300: 4.166e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 1.653826e6

GenotypeQuality
all individuals: 3855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 2640
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 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: 9658
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64806
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.907e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

DP
type: SiteQuality
SIO_000300: 1.643079e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.334e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

MQ
type: SiteQuality
SIO_000300: 4.185e1

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8181
bin: 6.75e1
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: 9658
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543066999969139e-5
allele num: 64806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

FS
type: SiteQuality
SIO_000300: 2.907e0

DP
type: SiteQuality
SIO_000300: 1.643079e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQ
type: SiteQuality
SIO_000300: 4.185e1

VQSLOD
type: SiteQuality
SIO_000300: -1.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

GenotypeQuality
all individuals: 2638
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1155
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.088803088803089e-5
allele num: 64750
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

DP
type: SiteQuality
SIO_000300: 1.641875e6

VQSLOD
type: SiteQuality
SIO_000300: -3.118e0

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 4.026e1

FS
type: SiteQuality
SIO_000300: 1.0047e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
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GenotypeQuality
all individuals: 34255
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variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
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variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64744
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: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: -3.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 4.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.372e0

DP
type: SiteQuality
SIO_000300: 1.641722e6

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

GenotypeQuality
all individuals: 2930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 31
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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: 114
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64674
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 9608
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.663e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.641028e6

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 4.175e1

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 9.75e1
variant carriers: 102

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 905
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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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.701206309928859e-4
allele num: 64660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 93
allele frequency: 5.633632178337775e-3
allele num: 16508
num of homozygotes: 2

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

DP
type: SiteQuality
SIO_000300: 1.651325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQ
type: SiteQuality
SIO_000300: 4.127e1

GenotypeQuality
all individuals: 8164
bin: 6.75e1
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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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2629
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546551190844417e-5
allele num: 64660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

DP
type: SiteQuality
SIO_000300: 1.651325e6

MQ
type: SiteQuality
SIO_000300: 4.127e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 433
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34264
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64638
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 9602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.672e0

DP
type: SiteQuality
SIO_000300: 1.641251e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.729e0

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 4.313e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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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: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
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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: 0
allele frequency: 0.0e0
allele num: 64626
num of homozygotes: 0

African
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allele count: 6
allele frequency: 6.253908692933083e-4
allele num: 9594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 4.199e1

FS
type: SiteQuality
SIO_000300: 1.162e0

QD
type: SiteQuality
SIO_000300: 8.19e0

DP
type: SiteQuality
SIO_000300: 1.642127e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.818012566907144e-4
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.303e1

DP
type: SiteQuality
SIO_000300: 1.641821e6

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.931e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.6e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

FS
type: SiteQuality
SIO_000300: 5.356e0

MQ
type: SiteQuality
SIO_000300: 4.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.641362e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 2920
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547795938583457e-5
allele num: 64608
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.641931e6

VQSLOD
type: SiteQuality
SIO_000300: -2.047e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.55e0

MQ
type: SiteQuality
SIO_000300: 4.497e1

QD
type: SiteQuality
SIO_000300: 1.097e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8163
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

MQ
type: SiteQuality
SIO_000300: 4.541e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.777e0

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

DP
type: SiteQuality
SIO_000300: 1.641756e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.739458857036717e-5
allele num: 64604
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 4.531e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.264e1

FS
type: SiteQuality
SIO_000300: 4.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
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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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 2.425418384671356e-4
allele num: 8246
num of homozygotes: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.36614e5

MQ
type: SiteQuality
SIO_000300: 4.778e1

QD
type: SiteQuality
SIO_000300: 2.858e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.68e-2

FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.547700117625209e-5
allele num: 64612
num of homozygotes: 0

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

African
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.641434e6

MQ
type: SiteQuality
SIO_000300: 4.824e1

BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.101929400086854e-5
allele num: 64476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16496
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VQSLOD
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SIO_000300: -1.867e0

InbreedingCoeff
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DP
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BaseQRankSum
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SIO_000300: 3.32e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: -6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551975665021572e-5
allele num: 64434
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.637366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.976e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.049e1

QD
type: SiteQuality
SIO_000300: 8.5e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557875058420315e-5
allele num: 64190
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.961e1

VQSLOD
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SIO_000300: -1.516e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.631697e6

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64170
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.630941e6

MQ
type: SiteQuality
SIO_000300: 4.673e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

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: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.562e-1

MQ
type: SiteQuality
SIO_000300: 4.905e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.825e0

QD
type: SiteQuality
SIO_000300: 1.611e1

DP
type: SiteQuality
SIO_000300: 1.63093e6

GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559916388481577e-5
allele num: 64106
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.121e0

FS
type: SiteQuality
SIO_000300: 2.078e0

MQ
type: SiteQuality
SIO_000300: 4.797e1

DP
type: SiteQuality
SIO_000300: 1.629085e6

VQSLOD
type: SiteQuality
SIO_000300: -1.358e0

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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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.247657128576784e-5
allele num: 64024
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

DP
type: SiteQuality
SIO_000300: 1.62385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.86e-1

MQ
type: SiteQuality
SIO_000300: 4.964e1

FS
type: SiteQuality
SIO_000300: 2.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57143755107172e-5
allele num: 63636
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.458e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.574684e6

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.054629824931449e-4
allele num: 9482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.652300949598247e-4
allele num: 62974
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.893e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

MQ
type: SiteQuality
SIO_000300: 3.24e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.93e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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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

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

Other
type: Population
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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: 8482
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.567987957852484e-5
allele num: 63776
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.911e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 4.019e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15836
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562353529356623e-5
allele num: 64006
num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.85e1

InbreedingCoeff
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SIO_000300: 3.1e-3

ReadPosRankSum
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MQRankSum
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SIO_000300: 1.21e-1

ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530924678505817e-5
allele num: 65320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.435041e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 3.059e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 1.314e0

QD
type: SiteQuality
SIO_000300: 3.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.237e0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.475e0

MQ
type: SiteQuality
SIO_000300: 3.327e1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.437094e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529566520847992e-5
allele num: 65378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.475e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

DP
type: SiteQuality
SIO_000300: 1.437094e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

MQ
type: SiteQuality
SIO_000300: 3.327e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.674e0

FS
type: SiteQuality
SIO_000300: 6.05e-1

DP
type: SiteQuality
SIO_000300: 1.434171e6

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

MQ
type: SiteQuality
SIO_000300: 3.317e1

QD
type: SiteQuality
SIO_000300: 9.15e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65266
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.489183531053733e-4
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.73785198106155e-4
allele num: 16052
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: -3.674e0

DP
type: SiteQuality
SIO_000300: 1.434171e6

FS
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 3.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

QD
type: SiteQuality
SIO_000300: 9.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 4929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06767286336585e-5
allele num: 65196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.238303181534623e-5
allele num: 16030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.315e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

DP
type: SiteQuality
SIO_000300: 1.430563e6

MQ
type: SiteQuality
SIO_000300: 2.992e1

FS
type: SiteQuality
SIO_000300: 1.085e0

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06767286336585e-5
allele num: 65196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.085e0

MQ
type: SiteQuality
SIO_000300: 2.992e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 1.430563e6

VQSLOD
type: SiteQuality
SIO_000300: -4.315e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

GenotypeQuality
all individuals: 4914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.265e0

QD
type: SiteQuality
SIO_000300: 7.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.6e0

MQ
type: SiteQuality
SIO_000300: 3.514e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.426799e6