1-156202245-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156202245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156202245
    reference: chr 1
allele count: 4
allele frequency: 3.305020325875004e-5
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.267+29G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*88+29G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.267+29G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.267+29G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.267+29G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-1174G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.267+29G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.267+29G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-1174G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.267+29G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*633+29G>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-156202252-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156202252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156202252
    reference: chr 1
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-1167T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-1167T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*88+36T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*633+36T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.267+36T>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.267+36T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.267+36T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.267+36T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.267+36T>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.267+36T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.267+36T>A
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-156202259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156202259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156202259
    reference: chr 1
allele count: 28
allele frequency: 2.317497103128621e-4
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.267+43T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.267+43T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.267+43T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-1160T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*633+43T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-1160T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.267+43T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.267+43T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.267+43T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*88+43T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.267+43T>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-156202262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156202262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156202262
    reference: chr 1
allele count: 88
allele frequency: 7.291166089449351e-4
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.267+46C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.267+46C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*88+46C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-1157C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-1157C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.267+46C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*633+46C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.267+46C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.267+46C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.267+46C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.267+46C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-156203372-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203372
    reference: chr 1
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-47A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-47A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-47A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-47A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-47A>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-156203380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203380
    reference: chr 1
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-39A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-39A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-39A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-39A>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-156203384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203384
    reference: chr 1
allele count: 1024
allele frequency: 8.451913235828189e-3
allele num: 121156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-35C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-35C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-35C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-35C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-35C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 9.75e1
  variant carriers: 685
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 2
num of homozygotes: 39
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-156203385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203385
    reference: chr 1
allele count: 19
allele frequency: 1.567811994586923e-4
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-34G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-34G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-34G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-34G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-34G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10556
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-156203399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203399
    reference: chr 1
allele count: 1456
allele frequency: 1.200567301032356e-2
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-20C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-20C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-20C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-20C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-20C>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 9.75e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 10579
  bin: 3.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 5498
  bin: 9.75e1
  variant carriers: 1438
num of homozygotes: 17
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum

1-156203400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203400
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-19T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-19T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-19T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-19T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-19T>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.75e1
  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: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-156203401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203401
    reference: chr 1
allele count: 3
allele frequency: 2.473492406378312e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-18T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-18T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-18T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-18T>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-156203404-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203404
    reference: chr 1
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-15C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-15C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-15C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-15C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-15C>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-156203406-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203406
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-13C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-13C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-13C>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-13C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-13C>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-156203411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203411
    reference: chr 1
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.268-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.268-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.268-8C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.268-8C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.268-8C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.268-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.171-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.274-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*634-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*89-8C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.268-8C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.268-8C>T
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-156203434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203434
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.283A>G
  hgvsp: ENSP00000458021.1:p.Ile95Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.283A>G
  hgvsp: ENSP00000324909.5:p.Ile95Val
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.283A>G
  hgvsp: ENSP00000455571.1:p.Ile95Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*649A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.283A>G
  hgvsp: ENSP00000475561.1:p.Ile95Val
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.283A>G
  hgvsp: ENSP00000357260.3:p.Ile95Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*104A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.283A>G
  hgvsp: ENSP00000357262.3:p.Ile95Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.289A>G
  hgvsp: ENSP00000357256.4:p.Ile97Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.186A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.283A>G
  hgvsp: ENSP00000357259.4:p.Ile95Val
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile95Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-156203442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203442
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203442
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.291G>A
  hgvsp: ENST00000368277.3:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476770
  ensembl transcript: ENST00000466489
  gene symbol: PMF1
  hgvsc: ENST00000466489.1:c.*657G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.297G>A
  hgvsp: ENST00000368273.4:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.194G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*112G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.291G>A
  hgvsp: ENST00000320139.5:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.291G>A
  hgvsp: ENST00000368279.3:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.291G>A
  hgvsp: ENST00000490491.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.291G>A
  hgvsp: ENST00000567140.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.291G>A
  hgvsp: ENST00000565805.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.291G>A
  hgvsp: ENST00000368276.4:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu97Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-156203447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203447
    reference: chr 1
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.302G>A
  hgvsp: ENSP00000357256.4:p.Gly101Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.296G>A
  hgvsp: ENSP00000458021.1:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.296G>A
  hgvsp: ENSP00000357262.3:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.296G>A
  hgvsp: ENSP00000357260.3:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.296G>A
  hgvsp: ENSP00000324909.5:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.296G>A
  hgvsp: ENSP00000357259.4:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*117G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.199G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.296G>A
  hgvsp: ENSP00000455571.1:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.296G>A
  hgvsp: ENSP00000475561.1:p.Gly99Glu
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly99Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

1-156203448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203448
    reference: chr 1
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.297G>A
  hgvsp: ENST00000320139.5:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.303G>A
  hgvsp: ENST00000368273.4:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.297G>A
  hgvsp: ENST00000565805.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.297G>A
  hgvsp: ENST00000490491.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.297G>A
  hgvsp: ENST00000368276.4:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.297G>A
  hgvsp: ENST00000567140.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*118G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.297G>A
  hgvsp: ENST00000368277.3:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.297G>A
  hgvsp: ENST00000368279.3:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.200G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly99Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

1-156203449-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203449
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*119A>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.298A>T
  hgvsp: ENSP00000357259.4:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.304A>T
  hgvsp: ENSP00000357256.4:p.Asn102Tyr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.298A>T
  hgvsp: ENSP00000357262.3:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.298A>T
  hgvsp: ENSP00000475561.1:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.298A>T
  hgvsp: ENSP00000458021.1:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.201A>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.298A>T
  hgvsp: ENSP00000455571.1:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.298A>T
  hgvsp: ENSP00000357260.3:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.298A>T
  hgvsp: ENSP00000324909.5:p.Asn100Tyr
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn100Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-156203455-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203455
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.304G>C
  hgvsp: ENSP00000357262.3:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.304G>C
  hgvsp: ENSP00000357259.4:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.310G>C
  hgvsp: ENSP00000357256.4:p.Glu104Gln
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.304G>C
  hgvsp: ENSP00000475561.1:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.304G>C
  hgvsp: ENSP00000324909.5:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.304G>C
  hgvsp: ENSP00000357260.3:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.304G>C
  hgvsp: ENSP00000458021.1:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.304G>C
  hgvsp: ENSP00000455571.1:p.Glu102Gln
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*125G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.207G>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu102Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-156203470-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203470
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203470
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.319G>T
  hgvsp: ENSP00000357262.3:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.325G>T
  hgvsp: ENSP00000357256.4:p.Ala109Ser
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.319G>T
  hgvsp: ENSP00000475561.1:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.319G>T
  hgvsp: ENSP00000324909.5:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.319G>T
  hgvsp: ENSP00000455571.1:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.319G>T
  hgvsp: ENSP00000357259.4:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.222G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*140G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.319G>T
  hgvsp: ENSP00000458021.1:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.319G>T
  hgvsp: ENSP00000357260.3:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala107Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-156203472-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203472
    reference: chr 1
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.224C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.321C>G
  hgvsp: ENST00000567140.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.321C>G
  hgvsp: ENST00000368279.3:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*142C>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.321C>G
  hgvsp: ENST00000565805.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.321C>G
  hgvsp: ENST00000368276.4:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.321C>G
  hgvsp: ENST00000320139.5:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.321C>G
  hgvsp: ENST00000490491.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.327C>G
  hgvsp: ENST00000368273.4:c.327C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.321C>G
  hgvsp: ENST00000368277.3:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala107Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-156203497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203497
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.346A>G
  hgvsp: ENSP00000324909.5:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*167A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.346A>G
  hgvsp: ENSP00000475561.1:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.346A>G
  hgvsp: ENSP00000458021.1:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.352A>G
  hgvsp: ENSP00000357256.4:p.Lys118Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.346A>G
  hgvsp: ENSP00000357260.3:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.346A>G
  hgvsp: ENSP00000357262.3:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.346A>G
  hgvsp: ENSP00000455571.1:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.346A>G
  hgvsp: ENSP00000357259.4:p.Lys116Glu
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.249A>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys116Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-156203503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203503
    reference: chr 1
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.352C>T
  hgvsp: ENSP00000458021.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.352C>T
  hgvsp: ENSP00000455571.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.358C>T
  hgvsp: ENSP00000357256.4:p.Arg120Cys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.352C>T
  hgvsp: ENSP00000324909.5:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.352C>T
  hgvsp: ENSP00000475561.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.352C>T
  hgvsp: ENSP00000357259.4:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.255C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*173C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.352C>T
  hgvsp: ENSP00000357262.3:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.352C>T
  hgvsp: ENSP00000357260.3:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg118Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-156203504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203504
    reference: chr 1
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.353G>A
  hgvsp: ENSP00000455571.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.353G>A
  hgvsp: ENSP00000475561.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.353G>A
  hgvsp: ENSP00000324909.5:p.Arg118His
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.256G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.353G>A
  hgvsp: ENSP00000458021.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.359G>A
  hgvsp: ENSP00000357256.4:p.Arg120His
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.353G>A
  hgvsp: ENSP00000357259.4:p.Arg118His
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.353G>A
  hgvsp: ENSP00000357262.3:p.Arg118His
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.353G>A
  hgvsp: ENSP00000357260.3:p.Arg118His
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*174G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg118His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-156203505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203505
    reference: chr 1
allele count: 46
allele frequency: 3.789751194595485e-4
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.354C>T
  hgvsp: ENST00000368276.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.360C>T
  hgvsp: ENST00000368273.4:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.354C>T
  hgvsp: ENST00000565805.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.257C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*175C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.354C>T
  hgvsp: ENST00000567140.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.354C>T
  hgvsp: ENST00000368277.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.354C>T
  hgvsp: ENST00000320139.5:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.354C>T
  hgvsp: ENST00000368279.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.354C>T
  hgvsp: ENST00000490491.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg118Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-156203509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203509
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*179G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.261G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.364G>A
  hgvsp: ENSP00000357256.4:p.Glu122Lys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.358G>A
  hgvsp: ENSP00000357259.4:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.358G>A
  hgvsp: ENSP00000458021.1:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.358G>A
  hgvsp: ENSP00000324909.5:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.358G>A
  hgvsp: ENSP00000357262.3:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.358G>A
  hgvsp: ENSP00000455571.1:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.358G>A
  hgvsp: ENSP00000357260.3:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.358G>A
  hgvsp: ENSP00000475561.1:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu120Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-156203510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203510
    reference: chr 1
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.365A>G
  hgvsp: ENSP00000357256.4:p.Glu122Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.262A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.359A>G
  hgvsp: ENSP00000475561.1:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.359A>G
  hgvsp: ENSP00000357259.4:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.359A>G
  hgvsp: ENSP00000357262.3:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.359A>G
  hgvsp: ENSP00000324909.5:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.359A>G
  hgvsp: ENSP00000357260.3:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.359A>G
  hgvsp: ENSP00000455571.1:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.359A>G
  hgvsp: ENSP00000458021.1:p.Glu120Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*180A>G
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu120Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-156203515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203515
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.364G>A
  hgvsp: ENSP00000475561.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.267G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.370G>A
  hgvsp: ENSP00000357256.4:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.364G>A
  hgvsp: ENSP00000357262.3:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.364G>A
  hgvsp: ENSP00000324909.5:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.364G>A
  hgvsp: ENSP00000455571.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.364G>A
  hgvsp: ENSP00000458021.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*185G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.364G>A
  hgvsp: ENSP00000357260.3:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.364G>A
  hgvsp: ENSP00000357259.4:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala122Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-156203518-T-TGGTGAGAGTGGGGTGGGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203518
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203537
    reference: chr 1
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: TGGTGAGAGTGGGGTGGGGA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-156203521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203521
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+2T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+2T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+2T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+2T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+2T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+2T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+2T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+2T>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 7.75e1
  variant carriers: 0
hgvs: c.368+2T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-156203522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203522
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+3G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+3G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+3G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+3G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+3G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+3G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+3G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+3G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+3G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+3G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33594
  bin: 6.25e1
  variant carriers: 0
hgvs: c.368+3G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-156203528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203528
    reference: chr 1
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+9G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+9G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+9G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+9G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+9G>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+9G>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+9G>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+9G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+9G>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+9G>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-156203535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203535
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+16G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+16G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+16G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+16G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+16G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+16G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+16G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+16G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+16G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+16G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-156203547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203547
    reference: chr 1
allele count: 2
allele frequency: 1.650682557237418e-5
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+28G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+28G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+28G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+28G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+28G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+28G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+28G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+28G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+28G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+28G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-156203550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203550
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+31C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+31C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+31C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+31C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+31C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+31C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+31C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+31C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+31C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+31C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-156203564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203564
    reference: chr 1
allele count: 1
allele frequency: 8.519629225736096e-6
allele num: 117376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+45C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+45C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+45C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+45C>T
  variant of: http://identifiers.org/hgnc/42953
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

1-156203567-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203567
    reference: chr 1
allele count: 1
allele frequency: 8.750590664869879e-6
allele num: 114278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+48T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+48T>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+48T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+48T>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+48T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+48T>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+48T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+48T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+48T>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+48T>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-156203568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203568
    reference: chr 1
allele count: 6
allele frequency: 5.255689283649551e-5
allele num: 114162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+49T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+49T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+49T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+49T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+49T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+49T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+49T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+49T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+49T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+49T>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-156203570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156203570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156203570
    reference: chr 1
allele count: 1
allele frequency: 8.84940089555937e-6
allele num: 113002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.368+51A>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.368+51A>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.368+51A>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+51A>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.374+51A>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.271+51A>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.368+51A>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+51A>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*189+51A>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.368+51A>C
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
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: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-156206028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206028
    reference: chr 1
allele count: 11
allele frequency: 9.618243184163126e-5
allele num: 114366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-51C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-112C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-51C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-51C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2509C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2509C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-51C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-112C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-51C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-112C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-156206030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206030
    reference: chr 1
allele count: 1
allele frequency: 8.745845723281442e-6
allele num: 114340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-110C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-49C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-49C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-49C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-49C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-49C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2511C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2511C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-110C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-110C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-156206033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206033
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206033
    reference: chr 1
allele count: 1
allele frequency: 8.734845043848922e-6
allele num: 114484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2514G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-107G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2514G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-46G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-46G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-46G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-107G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-46G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-46G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-107G>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-156206041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206041
    reference: chr 1
allele count: 45
allele frequency: 3.926358956461042e-4
allele num: 114610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-38C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-38C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2522C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-99C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2522C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-99C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-38C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-38C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-99C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-38C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-156206042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206042
    reference: chr 1
allele count: 1
allele frequency: 8.708373972411871e-6
allele num: 114832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-98G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2523G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-37G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-37G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2523G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-37G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-37G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-37G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-98G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-98G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-156206046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206046
    reference: chr 1
allele count: 1
allele frequency: 8.684626474215344e-6
allele num: 115146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-33C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-33C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-33C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-33C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2527C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-94C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2527C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-33C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-94C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-94C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-156206054-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206054
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206054
    reference: chr 1
allele count: 1
allele frequency: 8.64902266043937e-6
allele num: 115620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-86C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-25C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2535C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-25C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-25C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-25C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-86C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2535C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-25C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-86C>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-156206055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206055
    reference: chr 1
allele count: 1
allele frequency: 8.635280301198577e-6
allele num: 115804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2536C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2536C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-24C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-24C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-24C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-85C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-85C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-24C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-85C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-24C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-156206061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206061
    reference: chr 1
allele count: 48
allele frequency: 4.131093362709997e-4
allele num: 116192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2542C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-18C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-18C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-18C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-18C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-79C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-79C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-79C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2542C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-18C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16659
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-156206063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206063
    reference: chr 1
allele count: 3
allele frequency: 2.573781743308167e-5
allele num: 116560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-77C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-77C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2544C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-16C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-16C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-77C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2544C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-16C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-16C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-16C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-156206064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206064
    reference: chr 1
allele count: 13
allele frequency: 1.114139284551173e-4
allele num: 116682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-15C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2545C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-76C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2545C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-15C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-76C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-15C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-15C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-15C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-76C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16786
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22249
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-156206064-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206064
    reference: chr 1
allele count: 1
allele frequency: 8.57030218885518e-6
allele num: 116682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-15C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2545C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-15C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2545C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-15C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-15C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-76C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-76C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-76C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-15C>A
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-156206067-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206067
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206067
    reference: chr 1
allele count: 6
allele frequency: 5.119453924914676e-5
allele num: 117200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*190-12G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.272-12G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.369-12G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-73G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-73G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.375-12G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.369-12G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2548G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-73G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2548G>T
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-156206080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206080
    reference: chr 1
allele count: 2
allele frequency: 1.689246258319538e-5
allele num: 118396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.376C>T
  hgvsp: ENSP00000357256.4:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-60C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.370C>T
  hgvsp: ENSP00000475561.1:p.Arg124Cys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-60C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.370C>T
  hgvsp: ENSP00000357260.3:p.Arg124Cys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2561C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.273C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2561C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-60C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*191C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg126Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

1-156206085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206085
    reference: chr 1
allele count: 2
allele frequency: 1.67709259228202e-5
allele num: 119254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.278C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-55C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-55C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.381C>T
  hgvsp: ENST00000368273.4:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.375C>T
  hgvsp: ENST00000368277.3:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2566C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.375C>T
  hgvsp: ENST00000490491.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*196C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2566C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-55C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22243
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25864
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro127Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

1-156206088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206088
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206088
    reference: chr 1
allele count: 19
allele frequency: 1.590410660773777e-4
allele num: 119466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-52C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2569C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.384C>T
  hgvsp: ENST00000368273.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2569C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*199C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-52C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.378C>T
  hgvsp: ENST00000368277.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.378C>T
  hgvsp: ENST00000490491.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.281C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-52C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser128Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-156206089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206089
    reference: chr 1
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.379G>A
  hgvsp: ENSP00000475561.1:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-51G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.379G>A
  hgvsp: ENSP00000357260.3:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2570G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-51G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.385G>A
  hgvsp: ENSP00000357256.4:p.Gly129Arg
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.282G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-51G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*200G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2570G>A
  variant of: http://identifiers.org/hgnc/42953
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly129Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

1-156206091-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206091
    reference: chr 1
allele count: 4
allele frequency: 3.336057780520759e-5
allele num: 119902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*202G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.381G>T
  hgvsp: ENST00000490491.1:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.381G>T
  hgvsp: ENST00000368277.3:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-49G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-49G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2572G>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.387G>T
  hgvsp: ENST00000368273.4:c.387G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.284G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2572G>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-49G>T
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly129Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-156206101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206101
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206101
    reference: chr 1
allele count: 2
allele frequency: 1.659613310098747e-5
allele num: 120510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.391A>G
  hgvsp: ENSP00000475561.1:p.Lys131Glu
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2582A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-39A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.294A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-39A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.397A>G
  hgvsp: ENSP00000357256.4:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.391A>G
  hgvsp: ENSP00000357260.3:p.Lys131Glu
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2582A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*212A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-39A>G
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys133Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-156206105-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206105
    reference: chr 1
allele count: 18
allele frequency: 1.491523176612917e-4
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.298A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.401A>G
  hgvsp: ENSP00000357256.4:p.Asp134Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.395A>G
  hgvsp: ENSP00000357260.3:p.Asp132Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.395A>G
  hgvsp: ENSP00000475561.1:p.Asp132Gly
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2586A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-35A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2586A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*216A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-35A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-35A>G
  variant of: http://identifiers.org/hgnc/42953
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp134Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-156206113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206113
    reference: chr 1
allele count: 2
allele frequency: 1.654779831543413e-5
allele num: 120862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.409A>G
  hgvsp: ENSP00000357256.4:p.Ser137Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*224A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.403A>G
  hgvsp: ENSP00000475561.1:p.Ser135Gly
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.403A>G
  hgvsp: ENSP00000357260.3:p.Ser135Gly
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-27A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2594A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-27A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2594A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.306A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-27A>G
  variant of: http://identifiers.org/hgnc/42953
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser137Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-156206119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206119
    reference: chr 1
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*230A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-21A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.415A>G
  hgvsp: ENSP00000357256.4:p.Met139Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-21A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-21A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.409A>G
  hgvsp: ENSP00000475561.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.312A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2600A>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2600A>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.409A>G
  hgvsp: ENSP00000357260.3:p.Met137Val
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met139Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

1-156206120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206120
    reference: chr 1
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2601T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2601T>C
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.416T>C
  hgvsp: ENSP00000357256.4:p.Met139Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.313T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-20T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*231T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.410T>C
  hgvsp: ENSP00000357260.3:p.Met137Thr
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.410T>C
  hgvsp: ENSP00000475561.1:p.Met137Thr
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-20T>C
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-20T>C
  variant of: http://identifiers.org/hgnc/42953
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met139Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-156206121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206121
    reference: chr 1
allele count: 28391
allele frequency: 2.344464813622025e-1
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.314G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*232G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2602G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-19G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-19G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.411G>A
  hgvsp: ENSP00000475561.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.417G>A
  hgvsp: ENSP00000357256.4:p.Met139Ile
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.411G>A
  hgvsp: ENSP00000357260.3:p.Met137Ile
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2602G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-19G>A
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 19103
  bin: 9.75e1
  variant carriers: 18966
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 459
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.25e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 2.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 524
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 369
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 8
hgvs: p.Met139Ile
num of homozygotes: 3528
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-156206123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206123
    reference: chr 1
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*234C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.413C>T
  hgvsp: ENSP00000357260.3:p.Ala138Val
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-17C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2604C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2604C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.316C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.413C>T
  hgvsp: ENSP00000475561.1:p.Ala138Val
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-17C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-17C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.419C>T
  hgvsp: ENSP00000357256.4:p.Ala140Val
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala140Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-156206128-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206128
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*239T>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.424T>G
  hgvsp: ENSP00000357256.4:p.Tyr142Asp
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.418T>G
  hgvsp: ENSP00000357260.3:p.Tyr140Asp
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369-12T>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2609T>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369-12T>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369-12T>G
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.418T>G
  hgvsp: ENSP00000475561.1:p.Tyr140Asp
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.321T>G
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2609T>G
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr142Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-156206140-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206140
    reference: chr 1
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*251C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.369C>A
  hgvsp: ENSP00000458021.1:p.Cys123Ter
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.430C>A
  hgvsp: ENSP00000475561.1:p.Gln144Lys
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.430C>A
  hgvsp: ENSP00000357260.3:p.Gln144Lys
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.369C>A
  hgvsp: ENSP00000357262.3:p.Cys123Ter
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2621C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.369C>A
  hgvsp: ENSP00000357259.4:p.Cys123Ter
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2621C>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.333C>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.436C>A
  hgvsp: ENSP00000357256.4:p.Gln146Lys
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys123Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-156206143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206143
    reference: chr 1
allele count: 61
allele frequency: 5.034914241378741e-4
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.433C>T
  hgvsp: ENSP00000357260.3:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.433C>T
  hgvsp: ENSP00000475561.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.372C>T
  hgvsp: ENST00000368279.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.372C>T
  hgvsp: ENST00000567140.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2624C>T
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.439C>T
  hgvsp: ENSP00000357256.4:p.Arg147Trp
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.336C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.372C>T
  hgvsp: ENST00000368276.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*254C>T
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2624C>T
  variant of: http://identifiers.org/hgnc/9112
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg147Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-156206144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 156206144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 156206144
    reference: chr 1
allele count: 7
allele frequency: 5.778533573280061e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000475561
  ensembl transcript: ENST00000490491
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000490491.1:c.434G>A
  hgvsp: ENSP00000475561.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357262
  ensembl transcript: ENST00000368279
  gene symbol: PMF1
  hgvsc: ENST00000368279.3:c.373G>A
  hgvsp: ENSP00000357262.3:p.Gly125Arg
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357260
  ensembl transcript: ENST00000368277
  gene symbol: PMF1
  hgvsc: ENST00000368277.3:c.434G>A
  hgvsp: ENSP00000357260.3:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000458021
  ensembl transcript: ENST00000567140
  gene symbol: PMF1
  hgvsc: ENST00000567140.1:c.373G>A
  hgvsp: ENSP00000458021.1:p.Gly125Arg
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160783
  ensembl transcript: ENST00000606952
  gene symbol: PMF1
  hgvsc: ENST00000606952.1:n.337G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000455571
  ensembl transcript: ENST00000565805
  gene symbol: PMF1
  hgvsc: ENST00000565805.1:c.368+2625G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000357259
  ensembl transcript: ENST00000368276
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000368276.4:c.373G>A
  hgvsp: ENSP00000357259.4:p.Gly125Arg
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000476760
  ensembl transcript: ENST00000497069
  gene symbol: PMF1
  hgvsc: ENST00000497069.2:c.*255G>A
  variant of: http://identifiers.org/hgnc/9112
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000260238
  ensembl protein: ENSP00000324909
  ensembl transcript: ENST00000320139
  gene symbol: PMF1-BGLAP
  hgvsc: ENST00000320139.5:c.368+2625G>A
  variant of: http://identifiers.org/hgnc/42953
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160783
  ensembl protein: ENSP00000357256
  ensembl transcript: ENST00000368273
  gene symbol: PMF1
  hgvsc: ENST00000368273.4:c.440G>A
  hgvsp: ENSP00000357256.4:p.Arg147Gln
  variant of: http://identifiers.org/hgnc/9112
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly125Arg
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31566
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005645306588193e-5
allele num: 66604
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: 10404
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.694919e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.381e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
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: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.68753e6

QD
type: SiteQuality
SIO_000300: 1.703e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

GenotypeQuality
all individuals: 467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31558
bin: 9.75e1
variant carriers: 27

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

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 28
allele frequency: 1.733102253032929e-3
allele num: 16156
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 1.741e0

DP
type: SiteQuality
SIO_000300: 2.67474e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

QD
type: SiteQuality
SIO_000300: 1.34e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.767e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 885
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5254
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2086
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31599
bin: 9.75e1
variant carriers: 87

GenotypeQuality
all individuals: 3676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.457710694849515e-4
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 64
allele frequency: 3.984559830656207e-3
allele num: 16062
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.276e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.495e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 2.670711e6

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

GenotypeQuality
all individuals: 3509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6150
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.752653e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
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: 10386
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

DP
type: SiteQuality
SIO_000300: 2.758442e6

FS
type: SiteQuality
SIO_000300: 3.007e0

QD
type: SiteQuality
SIO_000300: 1.35e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.614e0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31529
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6265
bin: 9.75e1
variant carriers: 980

GenotypeQuality
all individuals: 3053
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.854625153871558e-4
allele num: 66614
num of homozygotes: 1

Latino
type: Population
allele count: 51
allele frequency: 4.404905855933667e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 924
allele frequency: 8.896591565569036e-2
allele num: 10386
num of homozygotes: 37

Other
type: Population
allele count: 7
allele frequency: 7.709251101321586e-3
allele num: 908
num of homozygotes: 1

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.827930782354375e-4
allele num: 16412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.304e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.78896e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.82e-2

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1035
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5362
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

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

European (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: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.519961051606621e-4
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.276e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.718087e6

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1129
allele frequency: 1.693821826146968e-2
allele num: 66654
num of homozygotes: 15

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.361161524500907e-3
allele num: 6612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 86
allele frequency: 5.220347213791429e-3
allele num: 16474
num of homozygotes: 1

African
type: Population
allele count: 42
allele frequency: 4.037685060565276e-3
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.3215859030837e-2
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 178
allele frequency: 1.537398514423907e-2
allele num: 11578
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.521e1

DP
type: SiteQuality
SIO_000300: 2.809297e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

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

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12163
bin: 6.75e1
variant carriers: 0

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

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

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

European (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: 66654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 6.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.64e-2

QD
type: SiteQuality
SIO_000300: 1.46e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 2.651006e6

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 1.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.651272e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.648e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 12161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.651615e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.954e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.0082e1

VQSLOD
type: SiteQuality
SIO_000300: -1.147e0

MQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12162
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.375e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.652067e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

GenotypeDepth
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.900000000000001e-3

VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 4.14e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
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SIO_000300: -3.794e0

ReadPosRankSum
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SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.653084e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

Other
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MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.305e1

DP
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.091e0

VQSLOD
type: SiteQuality
SIO_000300: -2.441e-1

BaseQRankSum
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SIO_000300: -1.409e0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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SIO_000300: 1.118e1

VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.653726e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1987
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variant carriers: 0

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

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

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

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

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

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

African
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allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 8.06e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 2.653722e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

East Asian
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Other
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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
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Latino
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Other
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East Asian
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European (Finnish)
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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MQ
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
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European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
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South Asian
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BaseQRankSum
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SIO_000300: -2.278e0

FS
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MQRankSum
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SIO_000300: 8.3e-2

ReadPosRankSum
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ClippingRankSum
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SIO_000300: 7.3e-2

VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 2.653564e6

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Latino
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FS
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.11e0

InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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allele num: 10400
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Latino
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East Asian
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allele num: 8654
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DP
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SIO_000300: 2.652576e6

VQSLOD
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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South Asian
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Latino
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allele num: 11576
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 6.444457766320964e-4
allele num: 66724
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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FS
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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DP
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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ReadPosRankSum
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BaseQRankSum
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FS
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SIO_000300: 5.921e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.648719e6

QD
type: SiteQuality
SIO_000300: 1.615e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.814e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 33598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1983
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.533e1

DP
type: SiteQuality
SIO_000300: 2.647977e6

VQSLOD
type: SiteQuality
SIO_000300: -2.562e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.243e0

FS
type: SiteQuality
SIO_000300: 1.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.66e-1

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

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

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 2.647835e6

VQSLOD
type: SiteQuality
SIO_000300: -1.005e0

MQ
type: SiteQuality
SIO_000300: 5.715e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

GenotypeQuality
all individuals: 3162
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3578
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

FS
type: SiteQuality
SIO_000300: 6.085e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.15e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e0

VQSLOD
type: SiteQuality
SIO_000300: -5.62e0

DP
type: SiteQuality
SIO_000300: 2.647579e6

GenotypeQuality
all individuals: 825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33466
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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: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
all individuals: 4059
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variant carriers: 2

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 12166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 2.645907e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 9.49e0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12148
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1033
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variant carriers: 0

GenotypeQuality
all individuals: 823
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 33403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 3139
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.238e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 6.361e0

DP
type: SiteQuality
SIO_000300: 2.644609e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11942
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
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GenotypeQuality
all individuals: 1007
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 1203
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variant carriers: 0

GenotypeQuality
all individuals: 74
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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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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3495
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variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.226e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.339e0

DP
type: SiteQuality
SIO_000300: 2.63308e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 109
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 81
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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: 8626
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.627471e6

FS
type: SiteQuality
SIO_000300: 6.372e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
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SIO_000300: -3.442e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
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variant carriers: 0

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

GenotypeQuality
all individuals: 938
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GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.011326860841424e-4
allele num: 9888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.079e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: -1.321e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.12e0

DP
type: SiteQuality
SIO_000300: 2.321877e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4924
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588360494297786e-5
allele num: 62958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.351e0

VQSLOD
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SIO_000300: -1.396e0

MQRankSum
type: SiteQuality
SIO_000300: -1.639e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 1.237e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.179832e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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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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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
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.536221748943069e-5
allele num: 62918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.173773e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.586747464102226e-5
allele num: 15182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.148891e6

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.583e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 2065
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variant carriers: 0

GenotypeQuality
all individuals: 22288
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1290
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variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.091919793527894e-3
allele num: 10074
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: 64232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.366567e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12516
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55724430048586e-5
allele num: 64216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.516e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 2.366975e6

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64264
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.36853e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.839e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 6.782e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.568e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 262
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variant carriers: 0

African
type: Population
allele count: 23
allele frequency: 2.283558379666402e-3
allele num: 10072
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: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.94806322737537e-4
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.93886875689302e-4
allele num: 12694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.088748561296544e-4
allele num: 64294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.373935e6

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1292
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GenotypeQuality
all individuals: 579
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553953257086027e-5
allele num: 64352
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: -1.967e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 7.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 2.374255e6

GenotypeQuality
all individuals: 797
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552264754276489e-5
allele num: 64422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13078
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.379285e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.482e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 6.794e0

QD
type: SiteQuality
SIO_000300: 1.229e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54933068914229e-5
allele num: 64544
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 5.759e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 2.38878e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548275221403357e-5
allele num: 64588
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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: 10084
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.738e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.390496e6

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 1340
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13816
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.601908065915004e-4
allele num: 11530
num of homozygotes: 0

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

African
type: Population
allele count: 44
allele frequency: 4.361617763679619e-3
allele num: 10088
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.572e0

DP
type: SiteQuality
SIO_000300: 2.398229e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 3
allele frequency: 2.134623594706134e-4
allele num: 14054
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
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Other
type: Population
allele count: 0
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allele num: 868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.399222e6

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.552e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

QD
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SIO_000300: 1.104e1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.542781326174828e-5
allele num: 64818
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.955401387512388e-4
allele num: 14126
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.967359050445104e-4
allele num: 10110
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.401743e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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Other
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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
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African
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allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

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

BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10114
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

Latino
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allele count: 6
allele frequency: 5.199306759098787e-4
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.365e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.407767e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059039461609055e-5
allele num: 65380
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

BaseQRankSum
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SIO_000300: -1.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 4.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.424372e6

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15702
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: 2
allele frequency: 3.045437933974906e-5
allele num: 65672
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
SIO_000300: 4.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

VQSLOD
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SIO_000300: -3.132e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 3.321e1

DP
type: SiteQuality
SIO_000300: 2.435183e6

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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GenotypeQuality
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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: 892
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: 7
allele frequency: 1.064606399805329e-4
allele num: 65752
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.044568245125348e-3
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.264382349222405e-4
allele num: 15818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 2.442107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.123e0

QD
type: SiteQuality
SIO_000300: 1.036e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 1.519248883352071e-5
allele num: 65822
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.962999999999999e0

DP
type: SiteQuality
SIO_000300: 2.44379e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.83e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

European (Finnish)
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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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034809262237868e-5
allele num: 65902
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.354e0

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

FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.447209e6

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022700480609376e-5
allele num: 66166
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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Latino
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allele frequency: 1.555478741790529e-3
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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QD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214771622934888e-4
allele num: 16464
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.218e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

DP
type: SiteQuality
SIO_000300: 2.461382e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
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GenotypeQuality
all individuals: 10
bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1536
bin: 7.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22251
bin: 9.75e1
variant carriers: 2

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012683397101799e-5
allele num: 66386
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 2.462337e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 624
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 22250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -1.358e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 6.593e0

DP
type: SiteQuality
SIO_000300: 2.462417e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.234e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.784e1

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: -2.754e0

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 26981
bin: 9.75e1
variant carriers: 24739

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 18

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 16

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 5013
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1098
bin: 7.75e1
variant carriers: 13

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 25226
bin: 6.25e1
variant carriers: 13

South Asian
type: Population
allele count: 2917
allele frequency: 1.767664525512059e-1
allele num: 16502
num of homozygotes: 267

African
type: Population
allele count: 1541
allele frequency: 1.488313695190265e-1
allele num: 10354
num of homozygotes: 124

East Asian
type: Population
allele count: 1622
allele frequency: 1.882107217451845e-1
allele num: 8618
num of homozygotes: 160

European (Finnish)
type: Population
allele count: 1898
allele frequency: 2.869670396129422e-1
allele num: 6614
num of homozygotes: 272

Other
type: Population
allele count: 225
allele frequency: 2.488938053097345e-1
allele num: 904
num of homozygotes: 28

Latino
type: Population
allele count: 1754
allele frequency: 1.515727618389215e-1
allele num: 11572
num of homozygotes: 138

European (Non-Finnish)
type: Population
allele count: 18434
allele frequency: 2.770613520906604e-1
allele num: 66534
num of homozygotes: 2539

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.321766e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8692
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.820891e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.38e-1

FS
type: SiteQuality
SIO_000300: 8.507e0

QD
type: SiteQuality
SIO_000300: 2.729e1

VQSLOD
type: SiteQuality
SIO_000300: -2.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 1885
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GenotypeQuality
all individuals: 846
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 2126
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GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 42087
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 8703
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GenotypeQuality
all individuals: 4033
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

FS
type: SiteQuality
SIO_000300: 5.968e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.820882e6

MQ
type: SiteQuality
SIO_000300: 5.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 1880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 42015
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 4030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
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GenotypeQuality
all individuals: 840
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 2123
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variant carriers: 0

GenotypeQuality
all individuals: 8693
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
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: 906
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.129e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

DP
type: SiteQuality
SIO_000300: 1.820545e6

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 8689
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 248
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GenotypeQuality
all individuals: 41981
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GenotypeQuality
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variant carriers: 61

GenotypeQuality
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GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 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: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 4.958677685950413e-4
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.332364341085271e-3
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.822893e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.269e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1