14-77771187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77771187
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77771187
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 25024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.364-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.462-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.155-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.529-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.103-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.439-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*105-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.463-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.166-44C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

14-77771188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77771188
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77771188
    reference: chr 14
allele count: 131
allele frequency: 5.259354424281356e-3
allele num: 24908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.439-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.462-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.463-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.155-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*105-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.103-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.529-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.364-45C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.166-45C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 7.5e0
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 28053
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 9.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 2
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-77771189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77771189
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77771189
    reference: chr 14
allele count: 3
allele frequency: 1.212611156022635e-4
allele num: 24740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.439-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.103-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.529-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.364-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*105-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.166-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.463-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.462-46A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.155-46A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28122
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

14-77772669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772669
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772669
    reference: chr 14
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.382C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*104+11C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.165+11C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.461+11C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.283C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.528+11C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.154+11C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+76C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.438+11C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/14-77772674-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772674
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772674
    reference: chr 14
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*104+6G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.461+6G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.154+6G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.438+6G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+71G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.377G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.528+6G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.165+6G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.278G>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: c.438+6G>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

14-77772682-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772682
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772682
    reference: chr 14
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.526G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.270G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.436G>C
  hgvsp: ENSP00000261534.4:p.Gly146Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.163G>C
  hgvsp: ENSP00000452060.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.369G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.459G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.152G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+63G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*102G>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly146Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

14-77772684-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772684
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772684
    reference: chr 14
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.367G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+61G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.161G>C
  hgvsp: ENSP00000452060.1:p.Arg54Thr
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.150G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*100G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.524G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.457G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.434G>C
  hgvsp: ENSP00000261534.4:p.Arg145Thr
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.268G>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg145Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-77772694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772694
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772694
    reference: chr 14
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.447A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.357A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.424A>G
  hgvsp: ENSP00000261534.4:p.Met142Val
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.514A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.140A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.151A>G
  hgvsp: ENSP00000452060.1:p.Met51Val
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+51A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.258A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met142Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-77772718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772718
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772718
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.116G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.400G>A
  hgvsp: ENSP00000261534.4:p.Asp134Asn
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.127G>A
  hgvsp: ENSP00000452060.1:p.Asp43Asn
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.490G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.423G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+27G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.333G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.234G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp134Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

14-77772720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772720
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772720
    reference: chr 14
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.488G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+25G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.232G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.398G>A
  hgvsp: ENSP00000261534.4:p.Gly133Glu
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.331G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.125G>A
  hgvsp: ENSP00000452060.1:p.Gly42Glu
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*64G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.114G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.421G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly133Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

14-77772721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772721
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772721
    reference: chr 14
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.113G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.420G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.231G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*63G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.124G>A
  hgvsp: ENSP00000452060.1:p.Gly42Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.487G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.330G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+24G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.397G>A
  hgvsp: ENSP00000261534.4:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly133Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

14-77772729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772729
    reference: chr 14
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.102+16A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.105A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.116A>G
  hgvsp: ENSP00000452060.1:p.Gln39Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.322A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.389A>G
  hgvsp: ENSP00000261534.4:p.Gln130Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.412A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.223A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.479A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln130Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-77772751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772751
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772751
    reference: chr 14
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.390T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*33T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.94T>C
  hgvsp: ENSP00000452060.1:p.Tyr32His
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.300T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.201T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.83T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.367T>C
  hgvsp: ENSP00000261534.4:p.Tyr123His
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.96T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.457T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr123His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

14-77772756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772756
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772756
    reference: chr 14
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.295G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.196G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.452G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.89G>A
  hgvsp: ENSP00000452060.1:p.Ser30Asn
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.78G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.385G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.362G>A
  hgvsp: ENSP00000261534.4:p.Ser121Asn
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.91G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  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: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser121Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-77772766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772766
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772766
    reference: chr 14
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.442G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.81G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.186G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.68G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.285G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.79G>A
  hgvsp: ENSP00000452060.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.352G>A
  hgvsp: ENSP00000261534.4:p.Gly118Ser
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.375G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly118Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

14-77772778-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772778
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772778
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.363A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*6A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.430A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.340A>T
  hgvsp: ENSP00000261534.4:p.Ile114Leu
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.67A>T
  hgvsp: ENSP00000452060.1:p.Ile23Leu
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.273A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.174A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.56A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.69A>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile114Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-77772790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772790
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772790
    reference: chr 14
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.57C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-6C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: c.334-6C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

14-77772792-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772792
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772792
    reference: chr 14
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-8C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-8C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.42C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-8C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.55C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-8C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-8C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-8C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-8C>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
hgvs: c.334-8C>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

14-77772797-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772797
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772797
    reference: chr 14
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-13C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-13C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-13C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.37C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-13C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.50C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-13C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-13C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-13C>A
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-77772800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772800
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772800
    reference: chr 14
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.34G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-16G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-16G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-16G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-16G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-16G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.47G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-16G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-16G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

14-77772805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772805
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772805
    reference: chr 14
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.42T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-21T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-21T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-21T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-21T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.29T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-21T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-21T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-21T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

14-77772810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772810
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772810
    reference: chr 14
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.24C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-26C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-26C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-26C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-26C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-26C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.37C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-26C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-26C>G
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-77772811-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772811
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772811
    reference: chr 14
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-27T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-27T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-27T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-27T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-27T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.36T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.23T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-27T>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-27T>A
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

14-77772812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772812
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772812
    reference: chr 14
allele count: 4
allele frequency: 3.361796544073152e-5
allele num: 118984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.22A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-28A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.35A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17605
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-77772818-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772818
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772818
    reference: chr 14
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-34C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-34C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.16C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-34C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-34C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-34C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.29C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-34C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-34C>A
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

14-77772819-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772819
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772819
    reference: chr 14
allele count: 72
allele frequency: 6.092710748557212e-4
allele num: 118174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.28G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-35G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-35G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-35G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-35G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-35G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.15G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-35G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-35G>C
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-77772828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772828
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772828
    reference: chr 14
allele count: 1
allele frequency: 8.56898029134533e-6
allele num: 116700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.19C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.6C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-44C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-44C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

14-77772829-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77772829
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77772829
    reference: chr 14
allele count: 12696
allele frequency: 1.092994025379225e-1
allele num: 116158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-45T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000553863
  gene symbol: POMT2
  hgvsc: ENST00000553863.1:n.18T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-45T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-45T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-45T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000556880
  gene symbol: POMT2
  hgvsc: ENST00000556880.1:n.267-45T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-45T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555675
  gene symbol: POMT2
  hgvsc: ENST00000555675.1:n.5T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-45T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 3.25e1
  variant carriers: 1035
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 1.75e1
  variant carriers: 2247
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 9.75e1
  variant carriers: 1264
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 2.25e1
  variant carriers: 2537
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 1.25e1
  variant carriers: 1076
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 2.75e1
  variant carriers: 1910
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 4.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 2.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.25e1
  variant carriers: 47
num of homozygotes: 873
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-77775063-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77775063
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77775063
    reference: chr 14
allele count: 1
allele frequency: 8.564576909900651e-5
allele num: 11676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-2279A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-2279A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-2279A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-2279A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-2279A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-2279A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

14-77775086-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77775086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77775086
    reference: chr 14
allele count: 1
allele frequency: 8.476012883539582e-5
allele num: 11798
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-2302A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-2302A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-2302A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-2302A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-2302A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-2302A>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

14-77775095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77775095
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77775095
    reference: chr 14
allele count: 30
allele frequency: 2.536354413256679e-3
allele num: 11828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-2311G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-2311G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-2311G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-2311G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-2311G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-2311G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

14-77775102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77775102
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77775102
    reference: chr 14
allele count: 5
allele frequency: 4.224400135180804e-4
allele num: 11836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-2318C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-2318C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-2318C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-2318C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-2318C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-2318C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-77775153-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77775153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77775154
    reference: chr 14
allele count: 4
allele frequency: 3.475238922675934e-4
allele num: 11510
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.168-2370dupA
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-2370dupA
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.424-2370dupA
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.61-2370dupA
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.357-2370dupA
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.334-2370dupA
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/14-77778248-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778248
    reference: chr 14
allele count: 1
allele frequency: 8.737439930100481e-6
allele num: 114450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.167+44G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.60+44G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5464G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.356+44G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.423+44G>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.333+44G>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-77778255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778255
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778255
    reference: chr 14
allele count: 1
allele frequency: 8.700494188069882e-6
allele num: 114936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5471G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.167+37G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.423+37G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.60+37G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.333+37G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.356+37G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

14-77778301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778301
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778301
    reference: chr 14
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.51C>T
  hgvsp: ENST00000554948.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5517C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.347C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.414C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.158C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.324C>T
  hgvsp: ENST00000261534.4:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro108Pro
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: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

14-77778305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778305
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778305
    reference: chr 14
allele count: 3
allele frequency: 2.510250188268764e-5
allele num: 119510
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.410C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.320C>T
  hgvsp: ENSP00000261534.4:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.47C>T
  hgvsp: ENSP00000452060.1:p.Pro16Leu
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.343C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.154C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5521C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29730
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro107Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-77778308-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778308
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778308
    reference: chr 14
allele count: 51
allele frequency: 4.433163540272248e-4
allele num: 115042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.151A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.317A>C
  hgvsp: ENSP00000261534.4:p.His106Pro
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5524A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.407A>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.44A>C
  hgvsp: ENSP00000452060.1:p.His15Pro
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.340A>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26287
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13988
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 31357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His106Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

14-77778319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778319
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778319
    reference: chr 14
allele count: 17
allele frequency: 1.441948836262469e-4
allele num: 117896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5535C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.329C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.396C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.306C>T
  hgvsp: ENST00000261534.4:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.33C>T
  hgvsp: ENST00000554948.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.140C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17555
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25954
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38191
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Phe102Phe
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

14-77778328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778328
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778328
    reference: chr 14
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.24T>C
  hgvsp: ENST00000554948.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.297T>C
  hgvsp: ENST00000261534.4:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.387T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5544T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.320T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.131T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg99Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

14-77778329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778329
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778329
    reference: chr 14
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.386G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.296G>A
  hgvsp: ENSP00000261534.4:p.Arg99His
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.319G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.130G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5545G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.23G>A
  hgvsp: ENSP00000452060.1:p.Arg8His
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg99His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

14-77778332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778332
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778332
    reference: chr 14
allele count: 4
allele frequency: 3.331667499583541e-5
allele num: 120060
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5548A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.293A>G
  hgvsp: ENSP00000261534.4:p.Asn98Ser
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.316A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.20A>G
  hgvsp: ENSP00000452060.1:p.Asn7Ser
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.383A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.127A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn98Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

14-77778334-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778334
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778334
    reference: chr 14
allele count: 2
allele frequency: 1.665528555487084e-5
allele num: 120082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.291C>A
  hgvsp: ENST00000261534.4:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.381C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.314C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.18C>A
  hgvsp: ENST00000554948.1:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.125C>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5550C>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile97Ile
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: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

14-77778338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778338
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778338
    reference: chr 14
allele count: 4
allele frequency: 3.331168074085178e-5
allele num: 120078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.121A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.14A>G
  hgvsp: ENSP00000452060.1:p.Tyr5Cys
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.310A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.377A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.287A>G
  hgvsp: ENSP00000261534.4:p.Tyr96Cys
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5554A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr96Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

14-77778344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778344
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778344
    reference: chr 14
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5560G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.281G>C
  hgvsp: ENSP00000261534.4:p.Ser94Thr
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.304G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.371G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.8G>C
  hgvsp: ENSP00000452060.1:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.115G>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser94Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-77778350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778350
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778350
    reference: chr 14
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.298T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.2T>C
  hgvsp: ENSP00000452060.1:p.Met1?
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.275T>C
  hgvsp: ENSP00000261534.4:p.Met92Thr
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.109T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.365T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5566T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42786
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

14-77778378-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778378
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778378
    reference: chr 14
allele count: 2
allele frequency: 1.701258931609391e-5
allele num: 117560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-2A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-2A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5594A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-2A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-2A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-2A>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6213
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: c.249-2A>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

14-77778394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778394
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778394
    reference: chr 14
allele count: 1
allele frequency: 8.951429543298065e-6
allele num: 111714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-18T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5610T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-18T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-18T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-18T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-18T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-77778395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778395
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778395
    reference: chr 14
allele count: 2
allele frequency: 1.79160097463093e-5
allele num: 111632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-19C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-19C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5611C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-19C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-19C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-19C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

14-77778404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778404
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778404
    reference: chr 14
allele count: 1
allele frequency: 9.148461228821313e-6
allele num: 109308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-28C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-28C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-28C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5620C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-28C>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-28C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6214
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

14-77778410-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778410
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778409
    reference: chr 14
allele count: 3
allele frequency: 2.800858930071889e-5
allele num: 107110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-35delT
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-35delT
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-35delT
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-35delT
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5627delT
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-35delT
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: TA
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-77778410-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778410
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778410
    reference: chr 14
allele count: 1
allele frequency: 9.336196433572962e-6
allele num: 107110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-34A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-34A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-34A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-34A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-34A>T
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5626A>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

14-77778410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778410
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778410
    reference: chr 14
allele count: 1
allele frequency: 9.336196433572962e-6
allele num: 107110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-34A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-34A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-34A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5626A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-34A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-34A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/14-77778413-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778413
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778413
    reference: chr 14
allele count: 5
allele frequency: 4.775275533398277e-5
allele num: 104706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-37T>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5629T>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-37T>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-37T>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-37T>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-37T>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

14-77778415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778415
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778415
    reference: chr 14
allele count: 4
allele frequency: 3.822410794488084e-5
allele num: 104646
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-39A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-39A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-39A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-39A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-39A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5631A>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-77778427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77778427
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77778427
    reference: chr 14
allele count: 1
allele frequency: 1.017563139792824e-5
allele num: 98274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.*-5643G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.272-51G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.249-51G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000555788
  gene symbol: POMT2
  hgvsc: ENST00000555788.1:n.83-51G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000557525
  gene symbol: POMT2
  hgvsc: ENST00000557525.1:n.339-51G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000452060
  ensembl transcript: ENST00000554948
  gene symbol: POMT2
  hgvsc: ENST00000554948.1:c.-25-51G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6211
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genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8905
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-77786768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786768
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786768
    reference: chr 14
allele count: 1
allele frequency: 5.971575301564553e-5
allele num: 16746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.271+9T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.248+9T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.248+9T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-77786770-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786770
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786770
    reference: chr 14
allele count: 1
allele frequency: 5.962318149296446e-5
allele num: 16772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.248+7G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.248+7G>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.271+7G>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27835
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
hgvs: c.248+7G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-77786771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786771
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786771
    reference: chr 14
allele count: 1
allele frequency: 5.958055290753098e-5
allele num: 16784
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.248+6T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.271+6T>C
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.248+6T>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28081
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
hgvs: c.248+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

14-77786783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786783
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786783
    reference: chr 14
allele count: 1
allele frequency: 5.960896518836433e-5
allele num: 16776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.242A>G
  hgvsp: ENSP00000450630.1:p.His81Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.265A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.242A>G
  hgvsp: ENSP00000261534.4:p.His81Arg
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His81Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

14-77786788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786788
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786788
    reference: chr 14
allele count: 2
allele frequency: 1.194172438500119e-4
allele num: 16748
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.237G>A
  hgvsp: ENST00000261534.4:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.237G>A
  hgvsp: ENST00000556326.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.260G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro79Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

14-77786793-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786793
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786793
    reference: chr 14
allele count: 6
allele frequency: 3.57824427480916e-4
allele num: 16768
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.232G>C
  hgvsp: ENSP00000450630.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.232G>C
  hgvsp: ENSP00000261534.4:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.255G>C
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33774
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30878
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu78Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

14-77786796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786796
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786796
    reference: chr 14
allele count: 2
allele frequency: 1.193887297039159e-4
allele num: 16752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.252G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.229G>A
  hgvsp: ENSP00000450630.1:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.229G>A
  hgvsp: ENSP00000261534.4:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34286
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Asp77Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

14-77786804-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786804
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786804
    reference: chr 14
allele count: 1
allele frequency: 6.049606775559588e-5
allele num: 16530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.244A>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.221A>G
  hgvsp: ENSP00000450630.1:p.His74Arg
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.221A>G
  hgvsp: ENSP00000261534.4:p.His74Arg
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His74Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-77786811-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786811
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786811
    reference: chr 14
allele count: 2
allele frequency: 1.205690860863275e-4
allele num: 16588
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.214C>G
  hgvsp: ENSP00000261534.4:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.237C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.214C>G
  hgvsp: ENSP00000450630.1:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32079
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg72Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

14-77786822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786822
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786822
    reference: chr 14
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.226C>G
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.203C>G
  hgvsp: ENSP00000450630.1:p.Ser68Cys
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.203C>G
  hgvsp: ENSP00000261534.4:p.Ser68Cys
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser68Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

14-77786832-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786832
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786832
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 16422
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.193A>T
  hgvsp: ENSP00000261534.4:p.Thr65Ser
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.193A>T
  hgvsp: ENSP00000450630.1:p.Thr65Ser
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.216A>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34142
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Thr65Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

14-77786844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786844
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786844
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 16100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.181C>T
  hgvsp: ENST00000261534.4:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.181C>T
  hgvsp: ENST00000556326.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.204C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11807
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3999
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu61Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

14-77786848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786848
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786848
    reference: chr 14
allele count: 2
allele frequency: 1.232134056185313e-4
allele num: 16232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.177C>T
  hgvsp: ENST00000556326.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.177C>T
  hgvsp: ENST00000261534.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.200C>T
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16121
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1786
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 427
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala59Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-77786853-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786853
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786853
    reference: chr 14
allele count: 13
allele frequency: 8.36981715168684e-4
allele num: 15532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.172T>G
  hgvsp: ENSP00000450630.1:p.Trp58Gly
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.172T>G
  hgvsp: ENSP00000261534.4:p.Trp58Gly
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.195T>G
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29024
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14170
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp58Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

14-77787049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77787049
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77787049
    reference: chr 14
allele count: 2
allele frequency: 2.018693098088298e-5
allele num: 99074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.-25G>A
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10676
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

14-77786855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77786855
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 77786855
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 16686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000261534
  ensembl transcript: ENST00000261534
  gene symbol: POMT2
  hgvsc: ENST00000261534.4:c.170G>A
  hgvsp: ENSP00000261534.4:p.Trp57Ter
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000009830
  ensembl protein: ENSP00000450630
  ensembl transcript: ENST00000556326
  gene symbol: POMT2
  hgvsc: ENST00000556326.1:c.170G>A
  hgvsp: ENSP00000450630.1:p.Trp57Ter
  variant of: http://identifiers.org/hgnc/19743
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000009830
  ensembl transcript: ENST00000452340
  gene symbol: POMT2
  hgvsc: ENST00000452340.3:n.193G>A
  variant of: http://identifiers.org/hgnc/19743
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28382
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Trp57Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4551
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25637
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6864
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 892
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6001
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.102e-1

DP
type: SiteQuality
SIO_000300: 7.91666e5

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 879
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 25447
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 4660
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5808
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 323
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5561
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.068923821039903e-4
allele num: 3308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 7.851534618129907e-3
allele num: 11208
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 4.690199950629474e-3
allele num: 8102
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.083333333333333e-3
allele num: 480
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.761904761904762e-3
allele num: 210
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.72e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.92584e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.472e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4786
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 3914
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6864
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 830
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.085402786190188e-4
allele num: 3302
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 212
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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
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DP
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SIO_000300: 7.90075e5

QD
type: SiteQuality
SIO_000300: 1.358e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -5.22e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.857e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.151793e6

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.721e0

QD
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.981e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.753e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.627e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -2.366e0

ReadPosRankSum
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SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 2.155156e6

QD
type: SiteQuality
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VQSLOD
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SIO_000300: -3.059e0

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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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.464e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 2.155386e6

QD
type: SiteQuality
SIO_000300: 1.434e1

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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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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FS
type: SiteQuality
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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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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 906
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DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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Latino
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South Asian
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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African
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East Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Latino
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South Asian
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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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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African
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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Latino
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European (Finnish)
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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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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European (Non-Finnish)
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Other
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
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: 11436
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.120524e6

FS
type: SiteQuality
SIO_000300: 4.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -2.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.723e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 1140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.768853034023149e-5
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.101e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e0

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

QD
type: SiteQuality
SIO_000300: 1.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 2.091318e6

FS
type: SiteQuality
SIO_000300: 1.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 1522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29353
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526344709689236e-5
allele num: 65516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.578e1

DP
type: SiteQuality
SIO_000300: 2.044482e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 429
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
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variant carriers: 0

GenotypeQuality
all individuals: 28531
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.801e0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

DP
type: SiteQuality
SIO_000300: 2.034247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 1.466e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5650
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variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.25e1
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GenotypeQuality
all individuals: 8690
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1085
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variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
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variant carriers: 0

GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.839099927413501e-4
allele num: 8266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.807e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 2.012941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
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variant carriers: 0

GenotypeQuality
all individuals: 4039
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variant carriers: 0

GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 284
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GenotypeQuality
all individuals: 4349
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variant carriers: 0

GenotypeQuality
all individuals: 1720
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variant carriers: 0

GenotypeQuality
all individuals: 2643
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variant carriers: 0

GenotypeQuality
all individuals: 5646
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variant carriers: 0

GenotypeQuality
all individuals: 19377
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variant carriers: 0

GenotypeQuality
all individuals: 8687
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variant carriers: 1

GenotypeQuality
all individuals: 875
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.928e-1

QD
type: SiteQuality
SIO_000300: 6.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.656e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.93939e6

GenotypeQuality
all individuals: 5689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
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variant carriers: 0

GenotypeQuality
all individuals: 4037
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
all individuals: 19993
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variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 8.25e1
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GenotypeQuality
all individuals: 1581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.62092973106189e-5
allele num: 64922
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.890469416785207e-5
allele num: 11248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

African
type: Population
allele count: 68
allele frequency: 6.722024515618822e-3
allele num: 10116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.938204e6

QD
type: SiteQuality
SIO_000300: 1.583e1

GenotypeQuality
all individuals: 5504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.5e0
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GenotypeQuality
all individuals: 1524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 6276
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variant carriers: 0

GenotypeQuality
all individuals: 1836
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GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 408
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GenotypeQuality
all individuals: 680
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GenotypeQuality
all individuals: 3707
bin: 6.75e1
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GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560987793075458e-5
allele num: 64062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.733e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.886e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.87159e6

GenotypeQuality
all individuals: 357
bin: 8.75e1
variant carriers: 58

GenotypeQuality
all individuals: 5325
bin: 3.75e1
variant carriers: 48

GenotypeQuality
all individuals: 374
bin: 1.25e1
variant carriers: 14

GenotypeQuality
all individuals: 5533
bin: 3.25e1
variant carriers: 34

GenotypeQuality
all individuals: 422
bin: 1.75e1
variant carriers: 21

GenotypeQuality
all individuals: 497
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 50

GenotypeQuality
all individuals: 2946
bin: 6.75e1
variant carriers: 72

GenotypeQuality
all individuals: 258
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 9707
bin: 6.25e1
variant carriers: 79

GenotypeQuality
all individuals: 1066
bin: 5.25e1
variant carriers: 90

GenotypeQuality
all individuals: 2432
bin: 4.25e1
variant carriers: 48

GenotypeQuality
all individuals: 17373
bin: 9.75e1
variant carriers: 11150

GenotypeQuality
all individuals: 4969
bin: 2.25e1
variant carriers: 25

European (Finnish)
type: Population
allele count: 636
allele frequency: 9.805735430157261e-2
allele num: 6486
num of homozygotes: 26

African
type: Population
allele count: 319
allele frequency: 3.20281124497992e-2
allele num: 9960
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 7986
allele frequency: 1.254240482472672e-1
allele num: 63672
num of homozygotes: 468

South Asian
type: Population
allele count: 3200
allele frequency: 1.974090067859346e-1
allele num: 16210
num of homozygotes: 364

Other
type: Population
allele count: 74
allele frequency: 8.409090909090909e-2
allele num: 880
num of homozygotes: 1

East Asian
type: Population
allele count: 47
allele frequency: 5.926860025220681e-3
allele num: 7930
num of homozygotes: 0

Latino
type: Population
allele count: 434
allele frequency: 3.938294010889292e-2
allele num: 11020
num of homozygotes: 11

DP
type: SiteQuality
SIO_000300: 1.865517e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.71e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.391594767603674e-4
allele num: 7186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.36896e5

QD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.564e0

FS
type: SiteQuality
SIO_000300: 2.246e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1523
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.377031120903333e-4
allele num: 7262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.46801e5

VQSLOD
type: SiteQuality
SIO_000300: -4.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 28

Latino
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.309468822170901e-3
allele num: 3464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 3.214285714285714e-2
allele num: 560
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.119747322164241e-4
allele num: 7282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

DP
type: SiteQuality
SIO_000300: 1.48189e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.854949273375377e-4
allele num: 7294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.48e-2

FS
type: SiteQuality
SIO_000300: 1.264e0

QD
type: SiteQuality
SIO_000300: 8.35e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

DP
type: SiteQuality
SIO_000300: 1.48269e5

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 306
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 755
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.178550383028874e-3
allele num: 3394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 9.965e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.25127e5

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
all individuals: 754
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6267
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.042970379641218e-4
allele num: 9588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

DP
type: SiteQuality
SIO_000300: 1.456544e6

VQSLOD
type: SiteQuality
SIO_000300: -8.739e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

QD
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeQuality
all individuals: 3838
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25388
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6269
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582378631558959e-5
allele num: 63196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.481e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

DP
type: SiteQuality
SIO_000300: 1.497222e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6286
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
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: 10034
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.412e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.677424e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 5.978e0

QD
type: SiteQuality
SIO_000300: 9.81e0

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

GenotypeQuality
all individuals: 587
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

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

GenotypeQuality
all individuals: 1424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.559547692868867e-5
allele num: 65796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 4.946e0

DP
type: SiteQuality
SIO_000300: 1.678941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.693e1

GenotypeQuality
all individuals: 6156
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 470
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variant carriers: 8

GenotypeQuality
all individuals: 954
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 1177
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2310
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3636
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1567
bin: 4.25e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.818615751789976e-4
allele num: 62850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 4.180602006688963e-3
allele num: 5980
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018329938900204e-4
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.253908692933083e-5
allele num: 15990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.629000000000001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

FS
type: SiteQuality
SIO_000300: 1.45087e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.678715e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 642
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6240
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4770
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 654
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 633
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variant carriers: 1

GenotypeQuality
all individuals: 743
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.492600093472504e-4
allele num: 64190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.720933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 1.74508e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.882e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.433e2

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.232e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.767e0

QD
type: SiteQuality
SIO_000300: 1.195e1

DP
type: SiteQuality
SIO_000300: 1.711457e6

MQRankSum
type: SiteQuality
SIO_000300: -1.226e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6225
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e0

DP
type: SiteQuality
SIO_000300: 1.713399e6

FS
type: SiteQuality
SIO_000300: 2.521e0

QD
type: SiteQuality
SIO_000300: 7.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -8.59e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6222
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.947887879984208e-4
allele num: 10132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 5.418e0

DP
type: SiteQuality
SIO_000300: 1.714088e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.431e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748557440111908e-4
allele num: 11438
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.956e0

DP
type: SiteQuality
SIO_000300: 1.715541e6

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

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

GenotypeQuality
all individuals: 610
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variant carriers: 0

GenotypeQuality
all individuals: 1007
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variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6221
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.541738577527478e-5
allele num: 66054
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.716057e6

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65992
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.716237e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.838e0

QD
type: SiteQuality
SIO_000300: 1.329e1

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.704e1

DP
type: SiteQuality
SIO_000300: 1.714524e6

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

FS
type: SiteQuality
SIO_000300: 1.2148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 35
bin: 7.5e0
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GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.098565364236359e-5
allele num: 64546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.675476e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.087e0

QD
type: SiteQuality
SIO_000300: 2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.458e0

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60986
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6348
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
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allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.26008064516129e-4
allele num: 7936
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.905e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 2933
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.522704339051463e-4
allele num: 7928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.829e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.797e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.466514e6

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4624
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.552923194497516e-5
allele num: 10468
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 4.384e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 1.350494e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.003e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.151098901098901e-5
allele num: 58240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.998e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQ
type: SiteQuality
SIO_000300: 5.425e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

DP
type: SiteQuality
SIO_000300: 1.28847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.94e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.512112529304507e-5
allele num: 15356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 1.998e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 8.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

DP
type: SiteQuality
SIO_000300: 1.28847e6

MQ
type: SiteQuality
SIO_000300: 5.425e1

GenotypeQuality
all individuals: 10562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5102
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.717032967032967e-5
allele num: 58240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

QD
type: SiteQuality
SIO_000300: 8.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQ
type: SiteQuality
SIO_000300: 5.425e1

FS
type: SiteQuality
SIO_000300: 1.998e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

DP
type: SiteQuality
SIO_000300: 1.28847e6

GenotypeQuality
all individuals: 1293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6216
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.821142514378462e-5
allele num: 56682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15178
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.248773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.774e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

FS
type: SiteQuality
SIO_000300: 4.444e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 959
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6984
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6215
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56662
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.0e-4
allele num: 10000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.1e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.809e0

VQSLOD
type: SiteQuality
SIO_000300: -2.125e0

DP
type: SiteQuality
SIO_000300: 1.247403e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
all individuals: 1686
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6807
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.897173211914248e-5
allele num: 52710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.212111e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.473e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.976284584980237e-3
allele num: 506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.069999999999999e-2

QD
type: SiteQuality
SIO_000300: 6.3e0

DP
type: SiteQuality
SIO_000300: 3.71469e5

MQRankSum
type: SiteQuality
SIO_000300: -8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.076e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.248e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 8.114000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.459e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

DP
type: SiteQuality
SIO_000300: 3.73244e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629726205997392e-4
allele num: 6136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.99e1

VQSLOD
type: SiteQuality
SIO_000300: -2.271e0

DP
type: SiteQuality
SIO_000300: 3.73861e5

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

GenotypeQuality
all individuals: 875
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.249e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

FS
type: SiteQuality
SIO_000300: 7.439e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -1.395e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 3.78964e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 3.92156862745098e-3
allele num: 510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.82112e5

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.428e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.069999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4856
bin: 6.25e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 3.205128205128205e-3
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.585446163977609e-4
allele num: 6074
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.277465508431272e-4
allele num: 7828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 3.86178e5

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 5.962e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.95e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.089324618736384e-3
allele num: 1836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.99e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

FS
type: SiteQuality
SIO_000300: 4.123e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.738e-1

DP
type: SiteQuality
SIO_000300: 3.89241e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.277465508431272e-4
allele num: 7828
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.763e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 3.91671e5

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 873
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.554931016862545e-4
allele num: 7828
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 3.9995e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.42e0

FS
type: SiteQuality
SIO_000300: 1.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
all individuals: 1007
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.976284584980237e-3
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.28e-2

DP
type: SiteQuality
SIO_000300: 4.1544e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.255e0

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 1.851e0

QD
type: SiteQuality
SIO_000300: 4.79e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.69e0

DP
type: SiteQuality
SIO_000300: 4.26522e5

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.4274e5

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.44e-2

QD
type: SiteQuality
SIO_000300: 1.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.383e-1

GenotypeQuality
all individuals: 13673
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.550369803621525e-4
allele num: 7842
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.52417e5

FS
type: SiteQuality
SIO_000300: 1.177e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.07e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 2.43536905207943e-3
allele num: 5338
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 476
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.64787e5

VQSLOD
type: SiteQuality
SIO_000300: -3.63e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 8.747e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

ClippingRankSum
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SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.723e1

QD
type: SiteQuality
SIO_000300: 9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.617e0

East Asian
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allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

South Asian
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allele frequency: 6.787023211619383e-5
allele num: 14734
num of homozygotes: 0

African
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allele frequency: 1.576789656259855e-4
allele num: 6342
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
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

QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
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SIO_000300: 2.669e0

MQ
type: SiteQuality
SIO_000300: 5.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 594
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QD
type: SiteQuality
SIO_000300: 1.555e1

DP
type: SiteQuality
SIO_000300: 4.71996e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1