9-134396836-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396836
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396836
    reference: chr 9
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.665G>C
  hgvsp: ENSP00000361294.4:p.Arg222Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1712G>C
  hgvsp: ENSP00000346748.4:p.Arg571Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+719C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1451G>C
  hgvsp: ENSP00000384531.2:p.Arg484Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1346G>C
  hgvsp: ENSP00000403032.2:p.Arg449Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1022G>C
  hgvsp: ENSP00000440895.1:p.Arg341Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2352G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1802G>C
  hgvsp: ENSP00000404119.1:p.Arg601Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1802G>C
  hgvsp: ENSP00000385797.3:p.Arg601Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1640G>C
  hgvsp: ENSP00000343034.7:p.Arg547Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.345G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1868G>C
  hgvsp: ENSP00000361302.3:p.Arg623Thr
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg623Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

9-134396838-A-ACTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396838
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396898
    reference: chr 9
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: ACTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

9-134396841-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396841
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396841
    reference: chr 9
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1873G>C
  hgvsp: ENSP00000361302.3:p.Val625Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1717G>C
  hgvsp: ENSP00000346748.4:p.Val573Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1807G>C
  hgvsp: ENSP00000385797.3:p.Val603Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.670G>C
  hgvsp: ENSP00000361294.4:p.Val224Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1456G>C
  hgvsp: ENSP00000384531.2:p.Val486Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.350G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1027G>C
  hgvsp: ENSP00000440895.1:p.Val343Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1351G>C
  hgvsp: ENSP00000403032.2:p.Val451Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1807G>C
  hgvsp: ENSP00000404119.1:p.Val603Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+714C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1645G>C
  hgvsp: ENSP00000343034.7:p.Val549Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2357G>C
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val625Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/9-134396850-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396850
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396850
    reference: chr 9
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2366C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1816C>A
  hgvsp: ENSP00000385797.3:p.Leu606Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1816C>A
  hgvsp: ENSP00000404119.1:p.Leu606Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.359C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.679C>A
  hgvsp: ENSP00000361294.4:p.Leu227Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1360C>A
  hgvsp: ENSP00000403032.2:p.Leu454Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1654C>A
  hgvsp: ENSP00000343034.7:p.Leu552Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1726C>A
  hgvsp: ENSP00000346748.4:p.Leu576Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1036C>A
  hgvsp: ENSP00000440895.1:p.Leu346Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1465C>A
  hgvsp: ENSP00000384531.2:p.Leu489Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1882C>A
  hgvsp: ENSP00000361302.3:p.Leu628Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+705G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu628Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-134396857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396857
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396857
    reference: chr 9
allele count: 3
allele frequency: 2.47639173215347e-5
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1043A>G
  hgvsp: ENSP00000440895.1:p.Gln348Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1823A>G
  hgvsp: ENSP00000404119.1:p.Gln608Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1472A>G
  hgvsp: ENSP00000384531.2:p.Gln491Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1733A>G
  hgvsp: ENSP00000346748.4:p.Gln578Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1367A>G
  hgvsp: ENSP00000403032.2:p.Gln456Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1823A>G
  hgvsp: ENSP00000385797.3:p.Gln608Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.366A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1889A>G
  hgvsp: ENSP00000361302.3:p.Gln630Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.686A>G
  hgvsp: ENSP00000361294.4:p.Gln229Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+698T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2373A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1661A>G
  hgvsp: ENSP00000343034.7:p.Gln554Arg
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln630Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-134396868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396868
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396868
    reference: chr 9
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+687G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+9C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+9C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

9-134396870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396870
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396870
    reference: chr 9
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+685G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+11C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+11C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

9-134396876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396876
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396876
    reference: chr 9
allele count: 4
allele frequency: 3.328174662606294e-5
allele num: 120186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+679G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+17C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

9-134396877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396877
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396877
    reference: chr 9
allele count: 3
allele frequency: 2.497294597519354e-5
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+678T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+18A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+18A>G
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

9-134396877-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396877
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396876
    reference: chr 9
allele count: 351
allele frequency: 2.921834679097644e-3
allele num: 120130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+677delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+19delT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+19delT
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 24403
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
num of homozygotes: 6
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AT
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

9-134396880-GCTTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396880
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396876
    reference: chr 9
allele count: 5
allele frequency: 4.172926055750292e-5
allele num: 119820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+30_2375+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+30_368+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+30_1369+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+30_1045+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+30_688+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+30_1891+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+30_1825+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+671_62+674delAAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+30_1735+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+30_1825+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+30_1474+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+30_1663+33delCTTT
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: GCTTT
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

9-134396880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396880
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396880
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 119820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+675C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+21G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+21G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-134396884-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396884
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396884
    reference: chr 9
allele count: 282
allele frequency: 2.362046436827822e-3
allele num: 119388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+671A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+25T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+25T>G
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22912
  bin: 2.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

9-134396888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396888
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396888
    reference: chr 9
allele count: 2
allele frequency: 1.676727028839705e-5
allele num: 119280
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+667A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+29T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+29T>C
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

9-134396889-CTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396889
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396885
    reference: chr 9
allele count: 1
allele frequency: 8.390247176681825e-6
allele num: 119186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+32_368+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+32_1891+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+32_1735+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+32_1369+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+32_1045+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+32_1663+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+32_1825+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+32_2375+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+32_1474+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+32_688+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+662_62+665delAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+32_1825+35delTTTT
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: CTTTT
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

9-134396892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396892
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396892
    reference: chr 9
allele count: 1
allele frequency: 8.399126490844953e-6
allele num: 119060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+663A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+33T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+33T>C
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19826
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

9-134396892-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396892
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396893
    reference: chr 9
allele count: 1
allele frequency: 8.399126490844953e-6
allele num: 119060
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+33_2375+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+33_1825+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+33_1369+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+33_1825+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+33_1891+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+33_1735+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+33_1045+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+33_368+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+33_688+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+33_1663+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+33_1474+34insC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+662_62+663insG
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-134396896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396896
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396896
    reference: chr 9
allele count: 3
allele frequency: 2.527209623614247e-5
allele num: 118708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+659T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+37A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+37A>G
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17505
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

9-134396899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396899
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396899
    reference: chr 9
allele count: 9
allele frequency: 7.594424005130455e-5
allele num: 118508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+656A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+40T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+40T>C
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

9-134396904-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134396904
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134396904
    reference: chr 9
allele count: 58
allele frequency: 4.923097816860761e-4
allele num: 117812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2375+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1825+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1891+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1045+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1735+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+651T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1825+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1369+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1474+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1663+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.368+45A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.688+45A>G
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

9-134397386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397386
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397386
    reference: chr 9
allele count: 8
allele frequency: 6.598373500932021e-5
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+169C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-48G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-48G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-134397394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397394
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397394
    reference: chr 9
allele count: 1127
allele frequency: 9.294998680390604e-3
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-40G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+161C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-40G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 841
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
num of homozygotes: 56
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

9-134397396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397396
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397396
    reference: chr 9
allele count: 24
allele frequency: 1.979512050279606e-4
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+159T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-38A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-38A>G
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

9-134397402-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397402
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397402
    reference: chr 9
allele count: 3
allele frequency: 2.474390062849507e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+153T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-32A>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-32A>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-134397407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397407
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397407
    reference: chr 9
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-27C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+148G>A
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

9-134397408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397408
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397408
    reference: chr 9
allele count: 4
allele frequency: 3.299350028044475e-5
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+147C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-26G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-26G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

9-134397411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397411
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397411
    reference: chr 9
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+144C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-23G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-23G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-134397417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397417
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397417
    reference: chr 9
allele count: 6
allele frequency: 4.949351634935823e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+138G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-17C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-17C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

9-134397418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397418
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397418
    reference: chr 9
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+137C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-16G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-16G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

9-134397418-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397418
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397418
    reference: chr 9
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-16G>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+137C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-16G>C
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-134397427-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397427
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397427
    reference: chr 9
allele count: 848
allele frequency: 6.994045164376557e-3
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-7C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+128G>T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-7C>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: c.1892-7C>A
num of homozygotes: 6
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

9-134397427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397427
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397427
    reference: chr 9
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+128G>A
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-7C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-7C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1892-7C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/9-134397428-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397428
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397428
    reference: chr 9
allele count: 848
allele frequency: 6.993929796780153e-3
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.689-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1892-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1826-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1826-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1370-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2376-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.369-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1475-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1736-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+127G>T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1046-6C>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1664-6C>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1892-6C>A
num of homozygotes: 6
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-134397435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397435
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397435
    reference: chr 9
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1737T>C
  hgvsp: ENST00000354713.4:c.1737T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1665T>C
  hgvsp: ENST00000341012.7:c.1665T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.370T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1047T>C
  hgvsp: ENST00000541219.1:c.1047T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1827T>C
  hgvsp: ENST00000423007.1:c.1827T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1476T>C
  hgvsp: ENST00000404875.2:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2377T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1893T>C
  hgvsp: ENST00000372228.3:c.1893T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+120A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1371T>C
  hgvsp: ENST00000419118.2:c.1371T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1827T>C
  hgvsp: ENST00000402686.3:c.1827T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.690T>C
  hgvsp: ENST00000372220.4:c.690T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1893T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

9-134397436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397436
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397436
    reference: chr 9
allele count: 3
allele frequency: 2.474349246148263e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+119C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.371G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1738G>A
  hgvsp: ENSP00000346748.4:p.Ala580Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1372G>A
  hgvsp: ENSP00000403032.2:p.Ala458Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2378G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1828G>A
  hgvsp: ENSP00000404119.1:p.Ala610Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1666G>A
  hgvsp: ENSP00000343034.7:p.Ala556Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1477G>A
  hgvsp: ENSP00000384531.2:p.Ala493Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.691G>A
  hgvsp: ENSP00000361294.4:p.Ala231Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1048G>A
  hgvsp: ENSP00000440895.1:p.Ala350Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1828G>A
  hgvsp: ENSP00000385797.3:p.Ala610Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1894G>A
  hgvsp: ENSP00000361302.3:p.Ala632Thr
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala632Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

9-134397438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397438
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397438
    reference: chr 9
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1740C>T
  hgvsp: ENST00000354713.4:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1830C>T
  hgvsp: ENST00000423007.1:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1050C>T
  hgvsp: ENST00000541219.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1374C>T
  hgvsp: ENST00000419118.2:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+117G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1830C>T
  hgvsp: ENST00000402686.3:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.373C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2380C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1896C>T
  hgvsp: ENST00000372228.3:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.693C>T
  hgvsp: ENST00000372220.4:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1479C>T
  hgvsp: ENST00000404875.2:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1668C>T
  hgvsp: ENST00000341012.7:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala632Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

9-134397442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397442
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397442
    reference: chr 9
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.377C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2384C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.697C>T
  hgvsp: ENST00000372220.4:c.697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1744C>T
  hgvsp: ENST00000354713.4:c.1744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1834C>T
  hgvsp: ENST00000423007.1:c.1834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1483C>T
  hgvsp: ENST00000404875.2:c.1483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1378C>T
  hgvsp: ENST00000419118.2:c.1378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1900C>T
  hgvsp: ENST00000372228.3:c.1900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1054C>T
  hgvsp: ENST00000541219.1:c.1054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1834C>T
  hgvsp: ENST00000402686.3:c.1834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1672C>T
  hgvsp: ENST00000341012.7:c.1672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+113G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu634Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

9-134397443-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397443
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397443
    reference: chr 9
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.378T>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1484T>A
  hgvsp: ENSP00000384531.2:p.Leu495Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1379T>A
  hgvsp: ENSP00000403032.2:p.Leu460Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1901T>A
  hgvsp: ENSP00000361302.3:p.Leu634Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1835T>A
  hgvsp: ENSP00000404119.1:p.Leu612Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1055T>A
  hgvsp: ENSP00000440895.1:p.Leu352Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2385T>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+112A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.698T>A
  hgvsp: ENSP00000361294.4:p.Leu233Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1673T>A
  hgvsp: ENSP00000343034.7:p.Leu558Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1835T>A
  hgvsp: ENSP00000385797.3:p.Leu612Gln
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1745T>A
  hgvsp: ENSP00000346748.4:p.Leu582Gln
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu634Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

9-134397445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397445
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397445
    reference: chr 9
allele count: 3
allele frequency: 2.474185992808366e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1486C>T
  hgvsp: ENSP00000384531.2:p.Arg496Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1903C>T
  hgvsp: ENSP00000361302.3:p.Arg635Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1747C>T
  hgvsp: ENSP00000346748.4:p.Arg583Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1837C>T
  hgvsp: ENSP00000385797.3:p.Arg613Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2387C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1381C>T
  hgvsp: ENSP00000403032.2:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1057C>T
  hgvsp: ENSP00000440895.1:p.Arg353Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1837C>T
  hgvsp: ENSP00000404119.1:p.Arg613Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.700C>T
  hgvsp: ENSP00000361294.4:p.Arg234Cys
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+110G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.380C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1675C>T
  hgvsp: ENSP00000343034.7:p.Arg559Cys
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg635Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-134397446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397446
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397446
    reference: chr 9
allele count: 5
allele frequency: 4.123847384655988e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1487G>A
  hgvsp: ENSP00000384531.2:p.Arg496His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1904G>A
  hgvsp: ENSP00000361302.3:p.Arg635His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1838G>A
  hgvsp: ENSP00000385797.3:p.Arg613His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+109C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2388G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.701G>A
  hgvsp: ENSP00000361294.4:p.Arg234His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1838G>A
  hgvsp: ENSP00000404119.1:p.Arg613His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.381G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1382G>A
  hgvsp: ENSP00000403032.2:p.Arg461His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1748G>A
  hgvsp: ENSP00000346748.4:p.Arg583His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1676G>A
  hgvsp: ENSP00000343034.7:p.Arg559His
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1058G>A
  hgvsp: ENSP00000440895.1:p.Arg353His
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg635His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-134397452-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397452
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397452
    reference: chr 9
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.707T>C
  hgvsp: ENSP00000361294.4:p.Val236Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1910T>C
  hgvsp: ENSP00000361302.3:p.Val637Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2394T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1388T>C
  hgvsp: ENSP00000403032.2:p.Val463Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1493T>C
  hgvsp: ENSP00000384531.2:p.Val498Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1844T>C
  hgvsp: ENSP00000385797.3:p.Val615Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1682T>C
  hgvsp: ENSP00000343034.7:p.Val561Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1754T>C
  hgvsp: ENSP00000346748.4:p.Val585Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1064T>C
  hgvsp: ENSP00000440895.1:p.Val355Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1844T>C
  hgvsp: ENSP00000404119.1:p.Val615Ala
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.387T>C
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+103A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val637Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

9-134397462-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397462
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397462
    reference: chr 9
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1074G>T
  hgvsp: ENST00000541219.1:c.1074G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.717G>T
  hgvsp: ENST00000372220.4:c.717G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.397G>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1692G>T
  hgvsp: ENST00000341012.7:c.1692G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2404G>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1920G>T
  hgvsp: ENST00000372228.3:c.1920G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1854G>T
  hgvsp: ENST00000423007.1:c.1854G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1854G>T
  hgvsp: ENST00000402686.3:c.1854G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1398G>T
  hgvsp: ENST00000419118.2:c.1398G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1764G>T
  hgvsp: ENST00000354713.4:c.1764G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1503G>T
  hgvsp: ENST00000404875.2:c.1503G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+93C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly640Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

9-134397463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397463
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397463
    reference: chr 9
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2405G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.718G>A
  hgvsp: ENSP00000361294.4:p.Ala240Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1693G>A
  hgvsp: ENSP00000343034.7:p.Ala565Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1504G>A
  hgvsp: ENSP00000384531.2:p.Ala502Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1075G>A
  hgvsp: ENSP00000440895.1:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1921G>A
  hgvsp: ENSP00000361302.3:p.Ala641Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1765G>A
  hgvsp: ENSP00000346748.4:p.Ala589Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1855G>A
  hgvsp: ENSP00000404119.1:p.Ala619Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+92C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1399G>A
  hgvsp: ENSP00000403032.2:p.Ala467Thr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1855G>A
  hgvsp: ENSP00000385797.3:p.Ala619Thr
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala641Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

9-134397464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397464
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397464
    reference: chr 9
allele count: 919
allele frequency: 7.580631856801122e-3
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1694C>T
  hgvsp: ENSP00000343034.7:p.Ala565Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.719C>T
  hgvsp: ENSP00000361294.4:p.Ala240Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1766C>T
  hgvsp: ENSP00000346748.4:p.Ala589Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1922C>T
  hgvsp: ENSP00000361302.3:p.Ala641Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1505C>T
  hgvsp: ENSP00000384531.2:p.Ala502Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1076C>T
  hgvsp: ENSP00000440895.1:p.Ala359Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1400C>T
  hgvsp: ENSP00000403032.2:p.Ala467Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2406C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1856C>T
  hgvsp: ENSP00000404119.1:p.Ala619Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.399C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1856C>T
  hgvsp: ENSP00000385797.3:p.Ala619Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+91G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 691
genotype quality: GenotypeQuality
hgvs: p.Ala641Val
num of homozygotes: 23
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

9-134397465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397465
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397465
    reference: chr 9
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1401G>A
  hgvsp: ENST00000419118.2:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1767G>A
  hgvsp: ENST00000354713.4:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1077G>A
  hgvsp: ENST00000541219.1:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1857G>A
  hgvsp: ENST00000402686.3:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.400G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1506G>A
  hgvsp: ENST00000404875.2:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+90C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1857G>A
  hgvsp: ENST00000423007.1:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.720G>A
  hgvsp: ENST00000372220.4:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1923G>A
  hgvsp: ENST00000372228.3:c.1923G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1695G>A
  hgvsp: ENST00000341012.7:c.1695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2407G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala641Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

9-134397469-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397469
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397469
    reference: chr 9
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1081T>G
  hgvsp: ENSP00000440895.1:p.Cys361Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2411T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.404T>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1927T>G
  hgvsp: ENSP00000361302.3:p.Cys643Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1699T>G
  hgvsp: ENSP00000343034.7:p.Cys567Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+86A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.724T>G
  hgvsp: ENSP00000361294.4:p.Cys242Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1861T>G
  hgvsp: ENSP00000385797.3:p.Cys621Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1861T>G
  hgvsp: ENSP00000404119.1:p.Cys621Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1405T>G
  hgvsp: ENSP00000403032.2:p.Cys469Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1510T>G
  hgvsp: ENSP00000384531.2:p.Cys504Gly
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1771T>G
  hgvsp: ENSP00000346748.4:p.Cys591Gly
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys643Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

9-134397474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397474
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397474
    reference: chr 9
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1086C>T
  hgvsp: ENST00000541219.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.409C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1866C>T
  hgvsp: ENST00000402686.3:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1515C>T
  hgvsp: ENST00000404875.2:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1410C>T
  hgvsp: ENST00000419118.2:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1704C>T
  hgvsp: ENST00000341012.7:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2416C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1866C>T
  hgvsp: ENST00000423007.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1932C>T
  hgvsp: ENST00000372228.3:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1776C>T
  hgvsp: ENST00000354713.4:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.729C>T
  hgvsp: ENST00000372220.4:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+81G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala644Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-134397475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397475
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397475
    reference: chr 9
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1516G>A
  hgvsp: ENSP00000384531.2:p.Gly506Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2417G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1087G>A
  hgvsp: ENSP00000440895.1:p.Gly363Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1411G>A
  hgvsp: ENSP00000403032.2:p.Gly471Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1867G>A
  hgvsp: ENSP00000404119.1:p.Gly623Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.730G>A
  hgvsp: ENSP00000361294.4:p.Gly244Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1705G>A
  hgvsp: ENSP00000343034.7:p.Gly569Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1777G>A
  hgvsp: ENSP00000346748.4:p.Gly593Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1867G>A
  hgvsp: ENSP00000385797.3:p.Gly623Ser
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+80C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.410G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1933G>A
  hgvsp: ENSP00000361302.3:p.Gly645Ser
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly645Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

9-134397500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397500
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397500
    reference: chr 9
allele count: 8
allele frequency: 6.598482349059716e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.435C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1892C>T
  hgvsp: ENSP00000404119.1:p.Pro631Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1802C>T
  hgvsp: ENSP00000346748.4:p.Pro601Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.755C>T
  hgvsp: ENSP00000361294.4:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+55G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1730C>T
  hgvsp: ENSP00000343034.7:p.Pro577Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1892C>T
  hgvsp: ENSP00000385797.3:p.Pro631Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1112C>T
  hgvsp: ENSP00000440895.1:p.Pro371Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1436C>T
  hgvsp: ENSP00000403032.2:p.Pro479Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1958C>T
  hgvsp: ENSP00000361302.3:p.Pro653Leu
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2442C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1541C>T
  hgvsp: ENSP00000384531.2:p.Pro514Leu
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro653Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

9-134397501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397501
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397501
    reference: chr 9
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1113G>A
  hgvsp: ENST00000541219.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1893G>A
  hgvsp: ENST00000423007.1:c.1893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1893G>A
  hgvsp: ENST00000402686.3:c.1893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.436G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1959G>A
  hgvsp: ENST00000372228.3:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1731G>A
  hgvsp: ENST00000341012.7:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1803G>A
  hgvsp: ENST00000354713.4:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.756G>A
  hgvsp: ENST00000372220.4:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1437G>A
  hgvsp: ENST00000419118.2:c.1437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1542G>A
  hgvsp: ENST00000404875.2:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2443G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+54C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro653Pro
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

9-134397506-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397506
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397505
    reference: chr 9
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1549delC
  hgvsp: ENSP00000384531.2:p.Leu517Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1738delC
  hgvsp: ENSP00000343034.7:p.Leu580Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1120delC
  hgvsp: ENSP00000440895.1:p.Leu374Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2450delC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.763delC
  hgvsp: ENSP00000361294.4:p.Leu255Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+48delG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1444delC
  hgvsp: ENSP00000403032.2:p.Leu482Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1900delC
  hgvsp: ENSP00000404119.1:p.Leu634Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1900delC
  hgvsp: ENSP00000385797.3:p.Leu634Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1810delC
  hgvsp: ENSP00000346748.4:p.Leu604Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1966delC
  hgvsp: ENSP00000361302.3:p.Leu656Ter
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.443delC
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu656Ter
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-134397513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397513
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397513
    reference: chr 9
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1971G>A
  hgvsp: ENSP00000361302.3:p.Met657Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1905G>A
  hgvsp: ENSP00000404119.1:p.Met635Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1905G>A
  hgvsp: ENSP00000385797.3:p.Met635Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1743G>A
  hgvsp: ENSP00000343034.7:p.Met581Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.768G>A
  hgvsp: ENSP00000361294.4:p.Met256Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2455G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1125G>A
  hgvsp: ENSP00000440895.1:p.Met375Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1554G>A
  hgvsp: ENSP00000384531.2:p.Met518Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1449G>A
  hgvsp: ENSP00000403032.2:p.Met483Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+42C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1815G>A
  hgvsp: ENSP00000346748.4:p.Met605Ile
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.448G>A
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met657Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

9-134397527-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397527
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397526
    reference: chr 9
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1759delC
  hgvsp: ENSP00000343034.7:p.Leu587SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1141delC
  hgvsp: ENSP00000440895.1:p.Leu381SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1921delC
  hgvsp: ENSP00000385797.3:p.Leu641SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1831delC
  hgvsp: ENSP00000346748.4:p.Leu611SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1465delC
  hgvsp: ENSP00000403032.2:p.Leu489SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1921delC
  hgvsp: ENSP00000404119.1:p.Leu641SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.784delC
  hgvsp: ENSP00000361294.4:p.Leu262SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2471delC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+27delG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1987delC
  hgvsp: ENSP00000361302.3:p.Leu663SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.464delC
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1570delC
  hgvsp: ENSP00000384531.2:p.Leu524SerfsTer81
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu663SerfsTer81
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: TC
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

9-134397529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397529
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397529
    reference: chr 9
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1831C>T
  hgvsp: ENSP00000346748.4:p.Leu611Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1921C>T
  hgvsp: ENSP00000385797.3:p.Leu641Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1921C>T
  hgvsp: ENSP00000404119.1:p.Leu641Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1141C>T
  hgvsp: ENSP00000440895.1:p.Leu381Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2471C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.464C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1759C>T
  hgvsp: ENSP00000343034.7:p.Leu587Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.784C>T
  hgvsp: ENSP00000361294.4:p.Leu262Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1987C>T
  hgvsp: ENSP00000361302.3:p.Leu663Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1465C>T
  hgvsp: ENSP00000403032.2:p.Leu489Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+26G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1570C>T
  hgvsp: ENSP00000384531.2:p.Leu524Phe
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu663Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-134397534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397534
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397534
    reference: chr 9
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1764C>T
  hgvsp: ENST00000341012.7:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1926C>T
  hgvsp: ENST00000402686.3:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1836C>T
  hgvsp: ENST00000354713.4:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2476C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.469C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1992C>T
  hgvsp: ENST00000372228.3:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+21G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1146C>T
  hgvsp: ENST00000541219.1:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.789C>T
  hgvsp: ENST00000372220.4:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1926C>T
  hgvsp: ENST00000423007.1:c.1926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1470C>T
  hgvsp: ENST00000419118.2:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1575C>T
  hgvsp: ENST00000404875.2:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr664Tyr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

9-134397540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397540
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397540
    reference: chr 9
allele count: 82
allele frequency: 6.762551956191858e-4
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1152C>T
  hgvsp: ENST00000541219.1:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1932C>T
  hgvsp: ENST00000423007.1:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1581C>T
  hgvsp: ENST00000404875.2:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.475C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.1998C>T
  hgvsp: ENST00000372228.3:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.62+15G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1770C>T
  hgvsp: ENST00000341012.7:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1476C>T
  hgvsp: ENST00000419118.2:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.795C>T
  hgvsp: ENST00000372220.4:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1842C>T
  hgvsp: ENST00000354713.4:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1932C>T
  hgvsp: ENST00000402686.3:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2482C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr666Tyr
num of homozygotes: 1
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

9-134397571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397571
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397571
    reference: chr 9
allele count: 5
allele frequency: 4.126229616425695e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1612C>T
  hgvsp: ENSP00000384531.2:p.Leu538Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1801C>T
  hgvsp: ENSP00000343034.7:p.Leu601Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1963C>T
  hgvsp: ENSP00000404119.1:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.826C>T
  hgvsp: ENSP00000361294.4:p.Leu276Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1507C>T
  hgvsp: ENSP00000403032.2:p.Leu503Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1963C>T
  hgvsp: ENSP00000385797.3:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2029C>T
  hgvsp: ENSP00000361302.3:p.Leu677Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.46G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1183C>T
  hgvsp: ENSP00000440895.1:p.Leu395Phe
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2513C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.506C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1873C>T
  hgvsp: ENSP00000346748.4:p.Leu625Phe
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu677Phe
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

9-134397577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397577
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397577
    reference: chr 9
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1969G>A
  hgvsp: ENSP00000404119.1:p.Val657Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2519G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1618G>A
  hgvsp: ENSP00000384531.2:p.Val540Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1969G>A
  hgvsp: ENSP00000385797.3:p.Val657Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1513G>A
  hgvsp: ENSP00000403032.2:p.Val505Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2035G>A
  hgvsp: ENSP00000361302.3:p.Val679Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1807G>A
  hgvsp: ENSP00000343034.7:p.Val603Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.832G>A
  hgvsp: ENSP00000361294.4:p.Val278Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1879G>A
  hgvsp: ENSP00000346748.4:p.Val627Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1189G>A
  hgvsp: ENSP00000440895.1:p.Val397Met
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.512G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.40C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val679Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

9-134397585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397585
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397585
    reference: chr 9
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1977G>A
  hgvsp: ENST00000423007.1:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2527G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1815G>A
  hgvsp: ENST00000341012.7:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.840G>A
  hgvsp: ENST00000372220.4:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1626G>A
  hgvsp: ENST00000404875.2:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1521G>A
  hgvsp: ENST00000419118.2:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1197G>A
  hgvsp: ENST00000541219.1:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2043G>A
  hgvsp: ENST00000372228.3:c.2043G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.520G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1887G>A
  hgvsp: ENST00000354713.4:c.1887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1977G>A
  hgvsp: ENST00000402686.3:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.32C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu681Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-134397587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397587
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397587
    reference: chr 9
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1979A>G
  hgvsp: ENSP00000385797.3:p.Gln660Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1817A>G
  hgvsp: ENSP00000343034.7:p.Gln606Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2045A>G
  hgvsp: ENSP00000361302.3:p.Gln682Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.522A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.842A>G
  hgvsp: ENSP00000361294.4:p.Gln281Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1199A>G
  hgvsp: ENSP00000440895.1:p.Gln400Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1889A>G
  hgvsp: ENSP00000346748.4:p.Gln630Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1628A>G
  hgvsp: ENSP00000384531.2:p.Gln543Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1979A>G
  hgvsp: ENSP00000404119.1:p.Gln660Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2529A>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1523A>G
  hgvsp: ENSP00000403032.2:p.Gln508Arg
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.30T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln682Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

9-134397594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397594
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397594
    reference: chr 9
allele count: 25
allele frequency: 2.06451186681421e-4
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2536C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.23G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1986C>T
  hgvsp: ENST00000402686.3:c.1986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1824C>T
  hgvsp: ENST00000341012.7:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1986C>T
  hgvsp: ENST00000423007.1:c.1986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1530C>T
  hgvsp: ENST00000419118.2:c.1530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2052C>T
  hgvsp: ENST00000372228.3:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1635C>T
  hgvsp: ENST00000404875.2:c.1635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1206C>T
  hgvsp: ENST00000541219.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1896C>T
  hgvsp: ENST00000354713.4:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.529C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.849C>T
  hgvsp: ENST00000372220.4:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile684Ile
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

9-134397597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397597
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397597
    reference: chr 9
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1989C>T
  hgvsp: ENST00000423007.1:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1827C>T
  hgvsp: ENST00000341012.7:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1209C>T
  hgvsp: ENST00000541219.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1533C>T
  hgvsp: ENST00000419118.2:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1989C>T
  hgvsp: ENST00000402686.3:c.1989C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1899C>T
  hgvsp: ENST00000354713.4:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.852C>T
  hgvsp: ENST00000372220.4:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2055C>T
  hgvsp: ENST00000372228.3:c.2055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1638C>T
  hgvsp: ENST00000404875.2:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.20G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2539C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.532C>T
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser685Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-134397598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397598
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397598
    reference: chr 9
allele count: 3
allele frequency: 2.477496077297878e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2540G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1990G>A
  hgvsp: ENSP00000385797.3:p.Asp664Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1828G>A
  hgvsp: ENSP00000343034.7:p.Asp610Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1534G>A
  hgvsp: ENSP00000403032.2:p.Asp512Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1639G>A
  hgvsp: ENSP00000384531.2:p.Asp547Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2056G>A
  hgvsp: ENSP00000361302.3:p.Asp686Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1210G>A
  hgvsp: ENSP00000440895.1:p.Asp404Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1990G>A
  hgvsp: ENSP00000404119.1:p.Asp664Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.533G>A
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1900G>A
  hgvsp: ENSP00000346748.4:p.Asp634Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.853G>A
  hgvsp: ENSP00000361294.4:p.Asp285Asn
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.19C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp686Asn
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

9-134397601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397601
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397601
    reference: chr 9
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.536C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2059C>T
  hgvsp: ENSP00000361302.3:p.His687Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1831C>T
  hgvsp: ENSP00000343034.7:p.His611Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1213C>T
  hgvsp: ENSP00000440895.1:p.His405Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1903C>T
  hgvsp: ENSP00000346748.4:p.His635Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1642C>T
  hgvsp: ENSP00000384531.2:p.His548Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.16G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1993C>T
  hgvsp: ENSP00000385797.3:p.His665Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.856C>T
  hgvsp: ENSP00000361294.4:p.His286Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1537C>T
  hgvsp: ENSP00000403032.2:p.His513Tyr
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2543C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1993C>T
  hgvsp: ENSP00000404119.1:p.His665Tyr
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His687Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

9-134397603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397603
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397603
    reference: chr 9
allele count: 2
allele frequency: 1.65188231990353e-5
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.858C>T
  hgvsp: ENST00000372220.4:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2545C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2061C>T
  hgvsp: ENST00000372228.3:c.2061C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.14G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1995C>T
  hgvsp: ENST00000402686.3:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1539C>T
  hgvsp: ENST00000419118.2:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1215C>T
  hgvsp: ENST00000541219.1:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1833C>T
  hgvsp: ENST00000341012.7:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.538C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1995C>T
  hgvsp: ENST00000423007.1:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1905C>T
  hgvsp: ENST00000354713.4:c.1905C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1644C>T
  hgvsp: ENST00000404875.2:c.1644C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His687His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

9-134397604-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397604
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397604
    reference: chr 9
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.859C>G
  hgvsp: ENSP00000361294.4:p.Leu287Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.13G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1906C>G
  hgvsp: ENSP00000346748.4:p.Leu636Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1216C>G
  hgvsp: ENSP00000440895.1:p.Leu406Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.1996C>G
  hgvsp: ENSP00000385797.3:p.Leu666Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2546C>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.1996C>G
  hgvsp: ENSP00000404119.1:p.Leu666Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1645C>G
  hgvsp: ENSP00000384531.2:p.Leu549Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1540C>G
  hgvsp: ENSP00000403032.2:p.Leu514Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.539C>G
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1834C>G
  hgvsp: ENSP00000343034.7:p.Leu612Val
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2062C>G
  hgvsp: ENSP00000361302.3:p.Leu688Val
  variant of: http://identifiers.org/hgnc/9202
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu688Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

9-134397609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134397609
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134397609
    reference: chr 9
allele count: 2
allele frequency: 1.652592090694254e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000384531
  ensembl transcript: ENST00000404875
  gene symbol: POMT1
  hgvsc: ENST00000404875.2:c.1650C>T
  hgvsp: ENST00000404875.2:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000404119
  ensembl transcript: ENST00000423007
  gene symbol: POMT1
  hgvsc: ENST00000423007.1:c.2001C>T
  hgvsp: ENST00000423007.1:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000440895
  ensembl transcript: ENST00000541219
  gene symbol: POMT1
  hgvsc: ENST00000541219.1:c.1221C>T
  hgvsp: ENST00000541219.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361302
  ensembl transcript: ENST00000372228
  gene symbol: POMT1
  hgvsc: ENST00000372228.3:c.2067C>T
  hgvsp: ENST00000372228.3:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000485278
  gene symbol: POMT1
  hgvsc: ENST00000485278.1:n.2551C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000403032
  ensembl transcript: ENST00000419118
  gene symbol: POMT1
  hgvsc: ENST00000419118.2:c.1545C>T
  hgvsp: ENST00000419118.2:c.1545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130714
  ensembl transcript: ENST00000494883
  gene symbol: POMT1
  hgvsc: ENST00000494883.1:n.544C>T
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000361294
  ensembl transcript: ENST00000372220
  gene symbol: POMT1
  hgvsc: ENST00000372220.4:c.864C>T
  hgvsp: ENST00000372220.4:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000385797
  ensembl transcript: ENST00000402686
  gene symbol: POMT1
  hgvsc: ENST00000402686.3:c.2001C>T
  hgvsp: ENST00000402686.3:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000346748
  ensembl transcript: ENST00000354713
  gene symbol: POMT1
  hgvsc: ENST00000354713.4:c.1911C>T
  hgvsp: ENST00000354713.4:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130714
  ensembl protein: ENSP00000343034
  ensembl transcript: ENST00000341012
  gene symbol: POMT1
  hgvsc: ENST00000341012.7:c.1839C>T
  hgvsp: ENST00000341012.7:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9202
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230289
  ensembl transcript: ENST00000415423
  gene symbol: RP11-334J6.6
  hgvsc: ENST00000415423.1:n.8G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2067C>T
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8986
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7627
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 66658
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.265e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.23176e6

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36110
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8988
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7628
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.956e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.579e0

QD
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.516e0

MQ
type: SiteQuality
SIO_000300: 5.249e1

DP
type: SiteQuality
SIO_000300: 2.231237e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 8986
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
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SIO_000300: 5.974e1

MQRankSum
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SIO_000300: -4.33e-1

DP
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ReadPosRankSum
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FS
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SIO_000300: 6.287e0

ClippingRankSum
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SIO_000300: -8.19e-1

VQSLOD
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SIO_000300: 1.52e0

QD
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SIO_000300: 1.294e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

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

African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 1.267e0

ClippingRankSum
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SIO_000300: 3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
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SIO_000300: -2.769e0

VQSLOD
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SIO_000300: -2.244e0

MQRankSum
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SIO_000300: -2.69e0

DP
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SIO_000300: 2.22879e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

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

African
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allele count: 3
allele frequency: 2.89073039121218e-4
allele num: 10378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.512e0

QD
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SIO_000300: 1.342e1

MQRankSum
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SIO_000300: 8.44e-1

InbreedingCoeff
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SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 2.22562e6

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.21e-1

QD
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FS
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 9.19e-1

DP
type: SiteQuality
SIO_000300: 2.213061e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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
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Latino
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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: 16440
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.049789769805499e-5
allele num: 66118
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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East Asian
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.574e0

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.53440150801131e-4
allele num: 8488
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
type: Population
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
type: SiteQuality
SIO_000300: 2.167971e6

GenotypeDepth
all individuals: 521
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9210
bin: 9.75e1
variant carriers: 344

GenotypeQuality
all individuals: 1901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026542780182198e-5
allele num: 66082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 333
allele frequency: 3.249414519906323e-2
allele num: 10248
num of homozygotes: 6

Latino
type: Population
allele count: 12
allele frequency: 1.046937707206421e-3
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.220703125e-4
allele num: 16384
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.035e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

QD
type: SiteQuality
SIO_000300: 1.49e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

DP
type: SiteQuality
SIO_000300: 2.167971e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeDepth
all individuals: 2871
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8914
bin: 9.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 1
allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.939447383891828e-4
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 2.139463e6

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 5.586e1

GenotypeDepth
all individuals: 768
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8914
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6813
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.139463e6

MQ
type: SiteQuality
SIO_000300: 5.586e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

GenotypeDepth
all individuals: 4458
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9052
bin: 9.75e1
variant carriers: 282

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 2.015422362425517e-3
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 117
allele frequency: 1.151348159811061e-2
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 52
allele frequency: 3.180817225348667e-3
allele num: 16348
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.547250654606046e-3
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.142944224321853e-3
allele num: 65620
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.533e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 2.08412e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8832
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28340
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.385496183206107e-4
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.043304e6

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 5.832e0

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.523e1

GenotypeDepth
all individuals: 542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8829
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.195314367678699e-4
allele num: 8366
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.557e0

MQ
type: SiteQuality
SIO_000300: 5.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e0

QD
type: SiteQuality
SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 2.031464e6

GenotypeDepth
all individuals: 5822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.564e0

FS
type: SiteQuality
SIO_000300: 1.635e0

DP
type: SiteQuality
SIO_000300: 1.995484e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.051e1

GenotypeDepth
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.861932938856015e-5
allele num: 10140
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: 16320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

DP
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SIO_000300: 1.995484e6

BaseQRankSum
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SIO_000300: -2.564e0

ReadPosRankSum
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SIO_000300: -6.1e-1

MQRankSum
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SIO_000300: -6.59e-1

QD
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SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 1.635e0

MQ
type: SiteQuality
SIO_000300: 6.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
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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variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.065791894046232e-5
allele num: 65236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
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SIO_000300: 1.950446e6

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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SIO_000300: -2.2e-2

VQSLOD
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SIO_000300: 1.04e0

BaseQRankSum
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SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 7
allele frequency: 4.303984259714707e-4
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.420721374969741e-4
allele num: 8262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.434e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 4.98e0

ClippingRankSum
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SIO_000300: 4.91e-1

VQSLOD
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SIO_000300: 7.39e-1

MQRankSum
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SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 1.914064e6

FS
type: SiteQuality
SIO_000300: 3.772e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeDepth
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 57

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 511
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64784
num of homozygotes: 0

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

African
type: Population
allele count: 57
allele frequency: 5.698860227954409e-3
allele num: 10002
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.869456e6

QD
type: SiteQuality
SIO_000300: 1.484e1

BaseQRankSum
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SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

ClippingRankSum
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SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeDepth
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bin: 4.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
all individuals: 105
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505704335294824e-5
allele num: 66616
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

DP
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SIO_000300: 2.983663e6

QD
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.959e1

FS
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeDepth
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1068

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

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050767059953766e-4
allele num: 66618
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 4.424778761061947e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 1087
allele frequency: 9.393363290701694e-2
allele num: 11572
num of homozygotes: 56

African
type: Population
allele count: 8
allele frequency: 7.704160246533128e-4
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.056935190793458e-4
allele num: 16510
num of homozygotes: 0

East Asian
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allele count: 11
allele frequency: 1.272264631043257e-3
allele num: 8646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.508e0

InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2039
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variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 24
allele frequency: 2.073971655720705e-3
allele num: 11572
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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MQ
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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Other
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South Asian
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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DP
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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Other
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ClippingRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66602
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

GenotypeQuality
all individuals: 2034
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 33
allele frequency: 4.989416389476867e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 768
allele frequency: 1.153049274840104e-2
allele num: 66606
num of homozygotes: 6

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 18
allele frequency: 1.555209953343701e-3
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.310803004043905e-3
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.351e0

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.751e1

DP
type: SiteQuality
SIO_000300: 2.980597e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeDepth
all individuals: 1787
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1088
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 7992
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GenotypeQuality
all individuals: 2976
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
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SIO_000300: -3.351e0

QD
type: SiteQuality
SIO_000300: 1.751e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 2.980597e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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variant carriers: 698

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 7

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3740
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variant carriers: 0

GenotypeQuality
all individuals: 39444
bin: 9.75e1
variant carriers: 842

African
type: Population
allele count: 24
allele frequency: 2.310803004043905e-3
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.555209953343701e-3
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 33
allele frequency: 4.989416389476867e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 768
allele frequency: 1.153014652894547e-2
allele num: 66608
num of homozygotes: 6

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.525e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.736e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 2.981572e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeDepth
all individuals: 7779
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2453
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variant carriers: 0

GenotypeDepth
all individuals: 6708
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variant carriers: 0

GenotypeDepth
all individuals: 4554
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variant carriers: 0

GenotypeDepth
all individuals: 1120
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variant carriers: 1

GenotypeDepth
all individuals: 697
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GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 4404
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 39173
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3020
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 43
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 3377
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GenotypeQuality
all individuals: 2067
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variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.48e-1

DP
type: SiteQuality
SIO_000300: 2.900985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 1.1836e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 4552
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variant carriers: 0

GenotypeDepth
all individuals: 3727
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variant carriers: 0

GenotypeDepth
all individuals: 1119
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variant carriers: 3

GenotypeDepth
all individuals: 7781
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.889060092449923e-4
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.271e0

DP
type: SiteQuality
SIO_000300: 2.901117e6

ReadPosRankSum
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SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
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SIO_000300: 1.19e0

ClippingRankSum
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SIO_000300: -1.693e0

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.674e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

East Asian
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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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Other
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
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FS
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QD
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GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

East Asian
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Other
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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QD
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FS
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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ReadPosRankSum
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FS
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DP
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QD
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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Latino
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allele num: 11574
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South Asian
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num of homozygotes: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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East Asian
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allele frequency: 2.313208420078649e-4
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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variant carriers: 1

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

South Asian
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num of homozygotes: 0

Other
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African
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East Asian
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European (Finnish)
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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: 1.501501501501501e-5
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VQSLOD
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FS
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Other
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African
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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allele num: 66584
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East Asian
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Latino
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allele num: 11574
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European (Finnish)
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South Asian
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MQRankSum
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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SIO_000300: -5.28e-1

InbreedingCoeff
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SIO_000300: 3.02e-2

DP
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SIO_000300: 2.94494e6

BaseQRankSum
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SIO_000300: 5.46e-1

VQSLOD
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SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.324e1

MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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ClippingRankSum
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SIO_000300: -5.8e-2

BaseQRankSum
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SIO_000300: -9.3e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 1.344e0

DP
type: SiteQuality
SIO_000300: 2.872073e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.871992e6

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 3.303e0

ClippingRankSum
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SIO_000300: -5.5e-2

BaseQRankSum
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SIO_000300: 3.33e0

QD
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SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

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
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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
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.507958435942099e-5
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.872371e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.162e1

FS
type: SiteQuality
SIO_000300: 1.744e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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SIO_000300: 6.08e-1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

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

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

South Asian
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allele num: 16512
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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.051082615093546e-4
allele num: 66598
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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MQ
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SIO_000300: 5.987e1

FS
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BaseQRankSum
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SIO_000300: 3.62e-1

InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

MQ
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SIO_000300: 6.017e1

BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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SIO_000300: 2.87187e6

GenotypeDepth
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variant carriers: 0

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

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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num of homozygotes: 0

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

South Asian
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.957e1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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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: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -3.287e0

ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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MQ
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QD
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MQRankSum
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SIO_000300: -7.7e-2

InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

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

East Asian
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Other
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South Asian
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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

Latino
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allele num: 11568
num of homozygotes: 0

African
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allele frequency: 0.0e0
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DP
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 2.22007722007722e-3
allele num: 10360
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South Asian
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -3.414e0

ReadPosRankSum
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MQ
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SIO_000300: 5.964e1

InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66494
num of homozygotes: 0

Latino
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South Asian
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African
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East Asian
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Other
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European (Finnish)
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Latino
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South Asian
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Other
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 2.856503e6

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

GenotypeDepth
all individuals: 6755
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38856
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: -2.053e0

DP
type: SiteQuality
SIO_000300: 2.855994e6

FS
type: SiteQuality
SIO_000300: 1.2021e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

GenotypeDepth
all individuals: 8586
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8144
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7772
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 8.75e1
variant carriers: 0