15-55731768-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731768
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731768
    reference: chr 15
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.807A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.795A>C
  hgvsp: ENSP00000403412.2:p.Lys265Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.795A>C
  hgvsp: ENSP00000370054.1:p.Lys265Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.795A>C
  hgvsp: ENSP00000402640.2:p.Lys265Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.826A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*122A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.795A>C
  hgvsp: ENSP00000299561.4:p.Lys265Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.795A>C
  hgvsp: ENSP00000323275.3:p.Lys265Asn
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys265Asn
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

15-55731770-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731770
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731770
    reference: chr 15
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.805A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.793A>T
  hgvsp: ENSP00000299561.4:p.Lys265Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.793A>T
  hgvsp: ENSP00000323275.3:p.Lys265Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.793A>T
  hgvsp: ENSP00000370054.1:p.Lys265Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*120A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.824A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.793A>T
  hgvsp: ENSP00000403412.2:p.Lys265Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.793A>T
  hgvsp: ENSP00000402640.2:p.Lys265Ter
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys265Ter
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

15-55731771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731771
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731771
    reference: chr 15
allele count: 2
allele frequency: 1.653548515113433e-5
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.792C>G
  hgvsp: ENSP00000402640.2:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.804C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.792C>G
  hgvsp: ENSP00000403412.2:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.792C>G
  hgvsp: ENSP00000370054.1:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.792C>G
  hgvsp: ENSP00000323275.3:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.823C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.792C>G
  hgvsp: ENSP00000299561.4:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His264Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-55731771-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731771
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731771
    reference: chr 15
allele count: 6
allele frequency: 4.9606455453403e-5
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.792C>A
  hgvsp: ENSP00000299561.4:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.804C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.792C>A
  hgvsp: ENSP00000323275.3:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.792C>A
  hgvsp: ENSP00000370054.1:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*119C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.792C>A
  hgvsp: ENSP00000402640.2:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.823C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.792C>A
  hgvsp: ENSP00000403412.2:p.His264Gln
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43147
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His264Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

15-55731772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731772
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731772
    reference: chr 15
allele count: 18
allele frequency: 1.486423994186431e-4
allele num: 121096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.791A>G
  hgvsp: ENSP00000403412.2:p.His264Arg
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.791A>G
  hgvsp: ENSP00000370054.1:p.His264Arg
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*118A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.822A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.791A>G
  hgvsp: ENSP00000402640.2:p.His264Arg
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.803A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.791A>G
  hgvsp: ENSP00000323275.3:p.His264Arg
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.791A>G
  hgvsp: ENSP00000299561.4:p.His264Arg
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His264Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-55731773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731773
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731773
    reference: chr 15
allele count: 1
allele frequency: 8.666112035496396e-6
allele num: 115392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.790C>T
  hgvsp: ENSP00000403412.2:p.His264Tyr
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.821C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.790C>T
  hgvsp: ENSP00000299561.4:p.His264Tyr
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.790C>T
  hgvsp: ENSP00000323275.3:p.His264Tyr
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.790C>T
  hgvsp: ENSP00000370054.1:p.His264Tyr
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.790C>T
  hgvsp: ENSP00000402640.2:p.His264Tyr
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.802C>T
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His264Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

15-55731773-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731773
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731773
    reference: chr 15
allele count: 2210
allele frequency: 1.915210759844703e-2
allele num: 115392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.790C>A
  hgvsp: ENSP00000323275.3:p.His264Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.790C>A
  hgvsp: ENSP00000370054.1:p.His264Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.790C>A
  hgvsp: ENSP00000299561.4:p.His264Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*117C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.802C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.790C>A
  hgvsp: ENSP00000403412.2:p.His264Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.790C>A
  hgvsp: ENSP00000402640.2:p.His264Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.821C>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1185
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 30880
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14938
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 42306
  bin: 6.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5410
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 11
hgvs: p.His264Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

15-55731774-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731774
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731774
    reference: chr 15
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.789A>G
  hgvsp: ENST00000457155.2:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.801A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.789A>G
  hgvsp: ENST00000448430.2:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.789A>G
  hgvsp: ENST00000380679.1:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.789A>G
  hgvsp: ENST00000321149.3:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*116A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.820A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.789A>G
  hgvsp: ENST00000348518.3:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu263Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

15-55731777-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731777
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731777
    reference: chr 15
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.798G>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*113G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.786G>C
  hgvsp: ENSP00000402640.2:p.Trp262Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.786G>C
  hgvsp: ENSP00000323275.3:p.Trp262Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.817G>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.786G>C
  hgvsp: ENSP00000403412.2:p.Trp262Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.786G>C
  hgvsp: ENSP00000370054.1:p.Trp262Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.786G>C
  hgvsp: ENSP00000299561.4:p.Trp262Cys
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp262Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

15-55731786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731786
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731786
    reference: chr 15
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-7A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-7A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-7A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-7A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-7A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-7A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-7A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-7A>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: c.784-7A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-55731795-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731795
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731795
    reference: chr 15
allele count: 1
allele frequency: 8.426161546369167e-6
allele num: 118678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-16T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-16T>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-16T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-16T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-16T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-16T>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-16T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-16T>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38742
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

15-55731796-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731796
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731796
    reference: chr 15
allele count: 1
allele frequency: 8.426019548365353e-6
allele num: 118680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-17C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-17C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-17C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-17C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-17C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-17C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-17C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-17C>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

15-55731798-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731798
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731797
    reference: chr 15
allele count: 2
allele frequency: 1.688875377885866e-5
allele num: 118422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-20delA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-20delA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-20delA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-20delA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-20delA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-20delA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-20delA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-20delA
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: CT
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

15-55731799-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731799
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731799
    reference: chr 15
allele count: 1
allele frequency: 8.474145382438182e-6
allele num: 118006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-20A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-20A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-20A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-20A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-20A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-20A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-20A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-20A>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

15-55731802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731802
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731802
    reference: chr 15
allele count: 1
allele frequency: 8.500799075113061e-6
allele num: 117636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-23A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-23A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-23A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-23A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-23A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-23A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-23A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-23A>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

15-55731802-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731802
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731802
    reference: chr 15
allele count: 1
allele frequency: 8.500799075113061e-6
allele num: 117636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-23A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-23A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-23A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-23A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-23A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-23A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-23A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-23A>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

15-55731805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731805
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731805
    reference: chr 15
allele count: 3
allele frequency: 2.56353289012698e-5
allele num: 117026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-26T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-26T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-26T>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

15-55731808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731808
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731808
    reference: chr 15
allele count: 1
allele frequency: 8.568246080027418e-6
allele num: 116710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-29T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-29T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-29T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-29T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-29T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-29T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-29T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-29T>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

15-55731808-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731808
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731808
    reference: chr 15
allele count: 2
allele frequency: 1.713649216005484e-5
allele num: 116710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-29T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-29T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-29T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-29T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-29T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-29T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-29T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-29T>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

15-55731809-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731809
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731809
    reference: chr 15
allele count: 1
allele frequency: 8.591803419537761e-6
allele num: 116390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-30A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-30A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-30A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-30A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-30A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-30A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-30A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-30A>T
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/15-55731814-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731814
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731814
    reference: chr 15
allele count: 6
allele frequency: 5.186901345136416e-5
allele num: 115676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-35T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-35T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-35T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-35T>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-35T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-35T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-35T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-35T>G
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

15-55731816-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731816
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731816
    reference: chr 15
allele count: 3
allele frequency: 2.605116448705257e-5
allele num: 115158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-37C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-37C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-37C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-37C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-37C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-37C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-37C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-37C>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

15-55731818-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731818
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731819
    reference: chr 15
allele count: 5
allele frequency: 4.374300111982083e-5
allele num: 114304
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-40dupA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-40dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-40dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-40dupA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-40dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-40dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-40dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-40dupA
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

15-55731823-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731823
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731823
    reference: chr 15
allele count: 1
allele frequency: 8.835795575033575e-6
allele num: 113176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-44A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-44A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-44A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-44A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-44A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-44A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-44A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-44A>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6406
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

15-55731825-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731825
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731825
    reference: chr 15
allele count: 1
allele frequency: 8.952230895939268e-6
allele num: 111704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-46A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-46A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-46A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-46A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-46A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-46A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-46A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-46A>T
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

15-55731829-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55731829
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55731829
    reference: chr 15
allele count: 2
allele frequency: 1.829725724113955e-5
allele num: 109306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.815-50A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.784-50A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*111-50A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.784-50A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.796-50A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.784-50A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.784-50A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.784-50A>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12638
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

15-55742375-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742375
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742375
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 116280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+45T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+45T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+45T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+45T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+45T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+45T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+45T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+45T>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

15-55742391-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742391
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742391
    reference: chr 15
allele count: 1
allele frequency: 8.508321138073035e-6
allele num: 117532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+29C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+29C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+29C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+29C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+29C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+29C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+29C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+29C>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

15-55742395-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742395
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742395
    reference: chr 15
allele count: 2
allele frequency: 1.693623507494284e-5
allele num: 118090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+25A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+25A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+25A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+25A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+25A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+25A>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+25A>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+25A>T
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-55742395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742395
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742395
    reference: chr 15
allele count: 33
allele frequency: 2.794478787365569e-4
allele num: 118090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+25A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+25A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+25A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+25A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+25A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+25A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+25A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+25A>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

15-55742395-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742395
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742395
    reference: chr 15
allele count: 1
allele frequency: 8.46811753747142e-6
allele num: 118090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+25A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+25A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+25A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+25A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+25A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+25A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+25A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+25A>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

15-55742404-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742404
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742404
    reference: chr 15
allele count: 1
allele frequency: 8.399408681628814e-6
allele num: 119056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+16C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+16C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+16C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+16C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+16C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+16C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+16C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+16C>G
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

15-55742406-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742406
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742407
    reference: chr 15
allele count: 2
allele frequency: 1.677064466358087e-5
allele num: 119256
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+13dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+13dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+13dupA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+13dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+13dupA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+13dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+13dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+13dupA
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

15-55742410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742410
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742410
    reference: chr 15
allele count: 2
allele frequency: 1.672632388853578e-5
allele num: 119572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+10C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+10C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+10C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+10C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+10C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+10C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+10C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+10C>T
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

15-55742414-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742414
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742414
    reference: chr 15
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+6T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+6T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+6T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+6T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+6T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+6T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+6T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+6T>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7181
  bin: 6.75e1
  variant carriers: 0
hgvs: c.783+6T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

15-55742415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742415
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742415
    reference: chr 15
allele count: 16
allele frequency: 1.333111148141976e-4
allele num: 120020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.783+5A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.795+5A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.783+5A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.814+5A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.783+5A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.783+5A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*110+5A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.783+5A>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22680
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10085
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: c.783+5A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

15-55742418-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742418
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742415
    reference: chr 15
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.782_783+1delAGG
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.782_783+1delAGG
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*109_*110+1delAGG
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.782_783+1delAGG
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.813_814+1delAGG
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.782_783+1delAGG
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.794_795+1delAGG
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.782_783+1delAGG
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: c.782_783+1delAGG
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: ACCT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-55742422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742422
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742422
    reference: chr 15
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.781G>A
  hgvsp: ENSP00000299561.4:p.Glu261Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.781G>A
  hgvsp: ENSP00000403412.2:p.Glu261Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.781G>A
  hgvsp: ENSP00000402640.2:p.Glu261Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.781G>A
  hgvsp: ENSP00000370054.1:p.Glu261Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.781G>A
  hgvsp: ENSP00000323275.3:p.Glu261Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.793G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*108G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.812G>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7251
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu261Lys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

15-55742432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742432
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742432
    reference: chr 15
allele count: 5
allele frequency: 4.130115147610316e-5
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.771A>G
  hgvsp: ENST00000321149.3:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.771A>G
  hgvsp: ENST00000348518.3:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.783A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.771A>G
  hgvsp: ENST00000457155.2:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.771A>G
  hgvsp: ENST00000380679.1:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.802A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.771A>G
  hgvsp: ENST00000448430.2:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*98A>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala257Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

15-55742438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742438
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742438
    reference: chr 15
allele count: 4
allele frequency: 3.301256127956687e-5
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.765A>G
  hgvsp: ENST00000457155.2:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.777A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.765A>G
  hgvsp: ENST00000348518.3:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.796A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.765A>G
  hgvsp: ENST00000448430.2:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.765A>G
  hgvsp: ENST00000380679.1:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.765A>G
  hgvsp: ENST00000321149.3:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*92A>G
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln255Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-55742443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742443
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742443
    reference: chr 15
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.760T>C
  hgvsp: ENSP00000370054.1:p.Ser254Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.760T>C
  hgvsp: ENSP00000323275.3:p.Ser254Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.760T>C
  hgvsp: ENSP00000299561.4:p.Ser254Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.760T>C
  hgvsp: ENSP00000402640.2:p.Ser254Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.760T>C
  hgvsp: ENSP00000403412.2:p.Ser254Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.791T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*87T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.772T>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser254Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

15-55742444-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742444
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742444
    reference: chr 15
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.759A>G
  hgvsp: ENST00000348518.3:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.759A>G
  hgvsp: ENST00000448430.2:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*86A>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.790A>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.759A>G
  hgvsp: ENST00000321149.3:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.759A>G
  hgvsp: ENST00000380679.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.759A>G
  hgvsp: ENST00000457155.2:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.771A>G
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu253Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

15-55742449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742449
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742449
    reference: chr 15
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.754C>T
  hgvsp: ENSP00000402640.2:p.Arg252Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.754C>T
  hgvsp: ENSP00000403412.2:p.Arg252Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.785C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.754C>T
  hgvsp: ENSP00000299561.4:p.Arg252Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.766C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.754C>T
  hgvsp: ENSP00000370054.1:p.Arg252Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*81C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.754C>T
  hgvsp: ENSP00000323275.3:p.Arg252Cys
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg252Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

15-55742454-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742454
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742454
    reference: chr 15
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.761C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.749C>G
  hgvsp: ENSP00000323275.3:p.Ala250Gly
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.749C>G
  hgvsp: ENSP00000403412.2:p.Ala250Gly
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*76C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.749C>G
  hgvsp: ENSP00000299561.4:p.Ala250Gly
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.749C>G
  hgvsp: ENSP00000370054.1:p.Ala250Gly
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.780C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.749C>G
  hgvsp: ENSP00000402640.2:p.Ala250Gly
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala250Gly
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

15-55742462-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742462
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742462
    reference: chr 15
allele count: 5
allele frequency: 4.122215443467937e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.753C>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.741C>A
  hgvsp: ENSP00000403412.2:p.Phe247Leu
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.741C>A
  hgvsp: ENSP00000299561.4:p.Phe247Leu
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.741C>A
  hgvsp: ENSP00000402640.2:p.Phe247Leu
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.741C>A
  hgvsp: ENSP00000323275.3:p.Phe247Leu
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*68C>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.741C>A
  hgvsp: ENSP00000370054.1:p.Phe247Leu
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.772C>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe247Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

15-55742469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742469
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742469
    reference: chr 15
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.734G>A
  hgvsp: ENSP00000403412.2:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.746G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.734G>A
  hgvsp: ENSP00000402640.2:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*61G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.734G>A
  hgvsp: ENSP00000323275.3:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.734G>A
  hgvsp: ENSP00000370054.1:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.734G>A
  hgvsp: ENSP00000299561.4:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.765G>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg245Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

15-55742470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742470
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742470
    reference: chr 15
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.745C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.733C>T
  hgvsp: ENSP00000403412.2:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.733C>T
  hgvsp: ENSP00000370054.1:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.733C>T
  hgvsp: ENSP00000323275.3:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.733C>T
  hgvsp: ENSP00000402640.2:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.764C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.733C>T
  hgvsp: ENSP00000299561.4:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg245Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/15-55742471-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742471
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742471
    reference: chr 15
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.744T>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.732T>G
  hgvsp: ENST00000348518.3:c.732T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.763T>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.732T>G
  hgvsp: ENST00000380679.1:c.732T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.732T>G
  hgvsp: ENST00000448430.2:c.732T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*59T>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.732T>G
  hgvsp: ENST00000321149.3:c.732T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.732T>G
  hgvsp: ENST00000457155.2:c.732T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro244Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

15-55742474-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742474
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742474
    reference: chr 15
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.741C>G
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.729C>G
  hgvsp: ENST00000348518.3:c.729C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.729C>G
  hgvsp: ENST00000321149.3:c.729C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*56C>G
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.729C>G
  hgvsp: ENST00000380679.1:c.729C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.729C>G
  hgvsp: ENST00000457155.2:c.729C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.729C>G
  hgvsp: ENST00000448430.2:c.729C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.760C>G
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr243Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

15-55742505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742505
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742505
    reference: chr 15
allele count: 3
allele frequency: 2.474185992808366e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.698G>A
  hgvsp: ENSP00000370054.1:p.Arg233His
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.710G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.698G>A
  hgvsp: ENSP00000402640.2:p.Arg233His
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.698G>A
  hgvsp: ENSP00000299561.4:p.Arg233His
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.698G>A
  hgvsp: ENSP00000323275.3:p.Arg233His
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.698G>A
  hgvsp: ENSP00000403412.2:p.Arg233His
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.729G>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg233His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

15-55742506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742506
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742506
    reference: chr 15
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.697C>T
  hgvsp: ENSP00000299561.4:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.697C>T
  hgvsp: ENSP00000370054.1:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.697C>T
  hgvsp: ENSP00000323275.3:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.697C>T
  hgvsp: ENSP00000402640.2:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.697C>T
  hgvsp: ENSP00000403412.2:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.709C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.728C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg233Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

15-55742509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742509
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742509
    reference: chr 15
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.694C>T
  hgvsp: ENSP00000403412.2:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.706C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.694C>T
  hgvsp: ENSP00000323275.3:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.694C>T
  hgvsp: ENSP00000299561.4:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.725C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.694C>T
  hgvsp: ENSP00000402640.2:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.694C>T
  hgvsp: ENSP00000370054.1:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro232Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-55742511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742511
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742511
    reference: chr 15
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.692C>T
  hgvsp: ENSP00000402640.2:p.Ala231Val
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.692C>T
  hgvsp: ENSP00000299561.4:p.Ala231Val
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.692C>T
  hgvsp: ENSP00000370054.1:p.Ala231Val
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.704C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.692C>T
  hgvsp: ENSP00000403412.2:p.Ala231Val
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.723C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.692C>T
  hgvsp: ENSP00000323275.3:p.Ala231Val
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10073
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala231Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

15-55742512-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742512
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742512
    reference: chr 15
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.703G>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.691G>C
  hgvsp: ENSP00000323275.3:p.Ala231Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.691G>C
  hgvsp: ENSP00000299561.4:p.Ala231Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.691G>C
  hgvsp: ENSP00000370054.1:p.Ala231Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.691G>C
  hgvsp: ENSP00000403412.2:p.Ala231Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.691G>C
  hgvsp: ENSP00000402640.2:p.Ala231Pro
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.722G>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala231Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/15-55742520-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742520
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742520
    reference: chr 15
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.683G>T
  hgvsp: ENSP00000403412.2:p.Ser228Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*10G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.683G>T
  hgvsp: ENSP00000402640.2:p.Ser228Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.683G>T
  hgvsp: ENSP00000323275.3:p.Ser228Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.683G>T
  hgvsp: ENSP00000299561.4:p.Ser228Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.683G>T
  hgvsp: ENSP00000370054.1:p.Ser228Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.695G>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.714G>T
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser228Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-55742520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742520
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742520
    reference: chr 15
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.683G>A
  hgvsp: ENSP00000299561.4:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.683G>A
  hgvsp: ENSP00000370054.1:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.683G>A
  hgvsp: ENSP00000403412.2:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.714G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.683G>A
  hgvsp: ENSP00000402640.2:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.683G>A
  hgvsp: ENSP00000323275.3:p.Ser228Asn
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.695G>A
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser228Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-55742528-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742528
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742529
    reference: chr 15
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.674dupA
  hgvsp: ENSP00000299561.4:p.Glu226GlyfsTer14
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.705dupA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.674dupA
  hgvsp: ENSP00000402640.2:p.Glu226GlyfsTer14
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.*1dupA
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.686dupA
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.674dupA
  hgvsp: ENSP00000370054.1:p.Glu226GlyfsTer14
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.674dupA
  hgvsp: ENSP00000323275.3:p.Glu226GlyfsTer14
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.674dupA
  hgvsp: ENSP00000403412.2:p.Glu226GlyfsTer14
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu226GlyfsTer14
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

15-55742539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742539
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742539
    reference: chr 15
allele count: 18
allele frequency: 1.487996825606772e-4
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.664G>A
  hgvsp: ENSP00000402640.2:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.664G>A
  hgvsp: ENSP00000403412.2:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.695G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.676G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.664G>A
  hgvsp: ENSP00000370054.1:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.664G>A
  hgvsp: ENSP00000299561.4:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.664G>A
  hgvsp: ENSP00000323275.3:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.432G>A
  hgvsp: ENST00000524160.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27112
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu222Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

15-55742541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742541
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742541
    reference: chr 15
allele count: 3
allele frequency: 2.480856060731356e-5
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.430C>T
  hgvsp: ENST00000524160.1:c.430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.662C>T
  hgvsp: ENSP00000370054.1:p.Thr221Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.662C>T
  hgvsp: ENSP00000299561.4:p.Thr221Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.674C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.662C>T
  hgvsp: ENSP00000323275.3:p.Thr221Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.662C>T
  hgvsp: ENSP00000402640.2:p.Thr221Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.662C>T
  hgvsp: ENSP00000403412.2:p.Thr221Ile
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.693C>T
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr221Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

15-55742580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742580
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742580
    reference: chr 15
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.669-15C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.638-15C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-15C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.638-15C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.650-15C>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.638-15C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.638-15C>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.638-15C>T
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

15-55742581-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742581
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742581
    reference: chr 15
allele count: 19
allele frequency: 1.59473569354216e-4
allele num: 119142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.638-16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.638-16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.638-16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.638-16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.638-16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.650-16A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.669-16A>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19115
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10085
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-55742584-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742584
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742584
    reference: chr 15
allele count: 3
allele frequency: 2.5241476794669e-5
allele num: 118852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.638-19G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.638-19G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-19G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.638-19G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.638-19G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.669-19G>T
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.638-19G>T
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.650-19G>T
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18488
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22205
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

15-55742590-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742590
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742590
    reference: chr 15
allele count: 179
allele frequency: 1.508232082371379e-3
allele num: 118682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.669-25T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.638-25T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.638-25T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.638-25T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.650-25T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.638-25T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.638-25T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-25T>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 17820
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10210
  bin: 9.75e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

15-55742617-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55742617
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55742617
    reference: chr 15
allele count: 1
allele frequency: 8.571183680466272e-6
allele num: 116670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.638-52T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-52T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.638-52T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.638-52T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.638-52T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.650-52T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.669-52T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.638-52T>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

15-55759081-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759081
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759081
    reference: chr 15
allele count: 3
allele frequency: 2.508151492350138e-5
allele num: 119610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+47T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+47T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+47T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16516T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+47T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+47T>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+47T>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+47T>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

15-55759087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759087
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759087
    reference: chr 15
allele count: 2
allele frequency: 1.672184876759975e-5
allele num: 119604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+41G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16522G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+41G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+41G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+41G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+41G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+41G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+41G>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

15-55759100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759100
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759100
    reference: chr 15
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+28G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+28G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+28G>A
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+28G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+28G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+28G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+28G>A
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16535G>A
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

15-55759102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759102
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759102
    reference: chr 15
allele count: 3
allele frequency: 2.508067617502968e-5
allele num: 119614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+26T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16537T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+26T>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+26T>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+26T>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8269
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

15-55759105-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759105
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759105
    reference: chr 15
allele count: 6
allele frequency: 5.016051364365971e-5
allele num: 119616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+23G>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16540G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+23G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+23G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+23G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+23G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+23G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+23G>C
  variant of: http://identifiers.org/hgnc/43019
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

15-55759112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759112
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759112
    reference: chr 15
allele count: 2
allele frequency: 1.671709657466691e-5
allele num: 119638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+16A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+16A>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+16A>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16547A>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

15-55759114-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55759114
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 55759114
    reference: chr 15
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000428097
  ensembl transcript: ENST00000524160
  gene symbol: DYX1C1
  hgvsc: ENST00000524160.1:c.406-16549G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000299561
  ensembl transcript: ENST00000348518
  gene symbol: DYX1C1
  hgvsc: ENST00000348518.3:c.637+14G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000565113
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000565113.1:n.668+14G>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000402640
  ensembl transcript: ENST00000457155
  gene symbol: DYX1C1
  hgvsc: ENST00000457155.2:c.637+14G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000370054
  ensembl transcript: ENST00000380679
  gene symbol: DYX1C1
  hgvsc: ENST00000380679.1:c.637+14G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000403412
  ensembl transcript: ENST00000448430
  gene symbol: DYX1C1
  hgvsc: ENST00000448430.2:c.637+14G>C
  variant of: http://identifiers.org/hgnc/21493
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261771
  ensembl transcript: ENST00000568310
  gene symbol: DYX1C1-CCPG1
  hgvsc: ENST00000568310.1:n.649+14G>C
  variant of: http://identifiers.org/hgnc/43019
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256061
  ensembl protein: ENSP00000323275
  ensembl transcript: ENST00000321149
  gene symbol: DYX1C1
  hgvsc: ENST00000321149.3:c.637+14G>C
  variant of: http://identifiers.org/hgnc/21493
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1331
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.691008e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

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

GenotypeQuality
all individuals: 43265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

DP
type: SiteQuality
SIO_000300: 1.69248e6

VQSLOD
type: SiteQuality
SIO_000300: -3.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.9352e1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4409
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008242584682029e-5
allele num: 66484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.2804e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.694145e6

QD
type: SiteQuality
SIO_000300: 5.17e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

VQSLOD
type: SiteQuality
SIO_000300: -3.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.016485169364058e-5
allele num: 66484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.2804e1

MQ
type: SiteQuality
SIO_000300: 5.873e1

DP
type: SiteQuality
SIO_000300: 1.694145e6

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.131e0

QD
type: SiteQuality
SIO_000300: 5.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.923e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43157
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4652
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.252996485325483e-4
allele num: 66578
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.114e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.701544e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.873e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
all individuals: 1766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587704813920996e-5
allele num: 62984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.61e1

DP
type: SiteQuality
SIO_000300: 1.872053e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.831e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 6.8444e1

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1564
bin: 7.25e1
variant carriers: 18

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 16

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 18

GenotypeQuality
all individuals: 459
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 8

GenotypeQuality
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bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2662
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 3776
bin: 9.75e1
variant carriers: 1972

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1766
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1122
bin: 8.25e1
variant carriers: 18

East Asian
type: Population
allele count: 59
allele frequency: 6.933019976498238e-3
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1309
allele frequency: 2.078305601422583e-2
allele num: 62984
num of homozygotes: 0

African
type: Population
allele count: 375
allele frequency: 4.030524505588994e-2
allele num: 9304
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.257907542579075e-4
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 45
allele frequency: 3.948753948753949e-3
allele num: 11396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 381
allele frequency: 6.43581081081081e-2
allele num: 5920
num of homozygotes: 0

Other
type: Population
allele count: 34
allele frequency: 4.05727923627685e-2
allele num: 838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.8444e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 2.85e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

VQSLOD
type: SiteQuality
SIO_000300: -2.61e1

DP
type: SiteQuality
SIO_000300: 1.872053e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.831e0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 5831
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GenotypeQuality
all individuals: 1335
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 4129
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variant carriers: 2

GenotypeQuality
all individuals: 2028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 1.778e0

DP
type: SiteQuality
SIO_000300: 1.665742e6

GenotypeQuality
all individuals: 491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5825
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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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variant carriers: 0

GenotypeQuality
all individuals: 4
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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: 43589
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.124e-1

DP
type: SiteQuality
SIO_000300: 1.66398e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1325
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variant carriers: 0

GenotypeQuality
all individuals: 2010
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variant carriers: 0

GenotypeQuality
all individuals: 571
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variant carriers: 0

GenotypeQuality
all individuals: 5718
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 42741
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 834
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 4128
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.653975e6

VQSLOD
type: SiteQuality
SIO_000300: -3.336e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 1561
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1921
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variant carriers: 0

GenotypeQuality
all individuals: 832
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 5206
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variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537893700787402e-5
allele num: 65024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.234e0

QD
type: SiteQuality
SIO_000300: 6.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.201e0

MQ
type: SiteQuality
SIO_000300: 5.623e1

DP
type: SiteQuality
SIO_000300: 1.603391e6

VQSLOD
type: SiteQuality
SIO_000300: -3.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.201e0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 4271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65022
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 8.935e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.406e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.63e1

DP
type: SiteQuality
SIO_000300: 1.60329e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 38028
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4724
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GenotypeQuality
all individuals: 831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 563
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GenotypeQuality
all individuals: 4125
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5179
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.084325458022331e-5
allele num: 64844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
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: 6544
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.125e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.592872e6

GenotypeQuality
all individuals: 1914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 36311
bin: 6.25e1
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GenotypeQuality
all individuals: 831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5074
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548946716232962e-5
allele num: 64560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.573722e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.504e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 1.772e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 210
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GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 667
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GenotypeQuality
all individuals: 34651
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GenotypeQuality
all individuals: 1550
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GenotypeQuality
all individuals: 4125
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variant carriers: 1

GenotypeQuality
all individuals: 1911
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GenotypeQuality
all individuals: 830
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variant carriers: 0

GenotypeQuality
all individuals: 130
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GenotypeQuality
all individuals: 5021
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554339716488436e-5
allele num: 64336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.13e-2

QD
type: SiteQuality
SIO_000300: 1.694e1

FS
type: SiteQuality
SIO_000300: 2.045e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.555772e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554339716488436e-5
allele num: 64336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

QD
type: SiteQuality
SIO_000300: 1.694e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.555772e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 2.045e0

VQSLOD
type: SiteQuality
SIO_000300: -7.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

GenotypeQuality
all individuals: 562
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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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variant carriers: 3

GenotypeQuality
all individuals: 2188
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.789869339538214e-4
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563232765358762e-5
allele num: 63970
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.48e1

FS
type: SiteQuality
SIO_000300: 4.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.651e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.64e-1

DP
type: SiteQuality
SIO_000300: 1.528049e6

MQ
type: SiteQuality
SIO_000300: 5.818e1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

GenotypeQuality
all individuals: 4125
bin: 9.75e1
variant carriers: 1

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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.968102073365231e-5
allele num: 10032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.559e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 9.021000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 1.511185e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

QD
type: SiteQuality
SIO_000300: 1.621e1

GenotypeQuality
all individuals: 383
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1234
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variant carriers: 0

GenotypeQuality
all individuals: 293
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.136369338853344e-5
allele num: 63768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 9.021000000000001e0

DP
type: SiteQuality
SIO_000300: 1.511185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

QD
type: SiteQuality
SIO_000300: 1.621e1

VQSLOD
type: SiteQuality
SIO_000300: -2.559e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2254
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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
all individuals: 4124
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 827
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variant carriers: 0

GenotypeQuality
all individuals: 28522
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GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.982032341784787e-5
allele num: 10018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.496369e6

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 8630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.518344478583047e-4
allele num: 11066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585087496829825e-5
allele num: 63088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.216e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 1.458542e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.616e0

QD
type: SiteQuality
SIO_000300: 1.293e1

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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1289
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variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.815211472136504e-4
allele num: 11018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593270027404244e-5
allele num: 62764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.438151e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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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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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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 1467
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.037293039704228e-5
allele num: 62210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.420718e6

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.025e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

QD
type: SiteQuality
SIO_000300: 1.17e1

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4122
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1840
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variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62813415825464e-5
allele num: 61420
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 1.387701e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.552e0

VQSLOD
type: SiteQuality
SIO_000300: -1.866e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
all individuals: 7412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
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GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655300271469245e-5
allele num: 60412
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 852
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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 4.2e-2

DP
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SIO_000300: 1.377343e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58818
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.633658151171978e-4
allele num: 7594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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ClippingRankSum
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QD
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SIO_000300: 9.15e0

BaseQRankSum
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SIO_000300: 4.47e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13808
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.112e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.711469e6

InbreedingCoeff
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SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.3725e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14338
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529613313754283e-5
allele num: 65376
num of homozygotes: 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 count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.780451e6

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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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65584
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.596e0

DP
type: SiteQuality
SIO_000300: 1.791732e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.469e1

BaseQRankSum
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SIO_000300: 3.39e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 32

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 12
allele frequency: 1.040943789035392e-3
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.049524274213223e-4
allele num: 65584
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

DP
type: SiteQuality
SIO_000300: 1.791732e6

FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-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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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524762137106611e-5
allele num: 65584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.791732e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.373e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 2.314814814814815e-4
allele num: 8640
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 1.934610176049526e-4
allele num: 10338
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
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Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 9.502090459901178e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: -5.0e-3

MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 900
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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DP
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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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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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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Other
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
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VQSLOD
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
allele num: 66666
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.998980173370527e-5
allele num: 66678
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16494
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.983e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Latino
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African
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allele num: 10388
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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South Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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FS
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SIO_000300: 8.733000000000001e0

QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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South Asian
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allele num: 16498
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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VQSLOD
type: SiteQuality
SIO_000300: -3.538e-1

QD
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.0e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66686
num of homozygotes: 0

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

Latino
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East Asian
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 2.99895036737142e-5
allele num: 66690
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African
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European (Finnish)
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66654
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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Latino
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.839156e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 5.038e0

DP
type: SiteQuality
SIO_000300: 1.839202e6

QD
type: SiteQuality
SIO_000300: 1.413e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 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: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.839069e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 1.982e0

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.024e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
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: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.909e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

DP
type: SiteQuality
SIO_000300: 1.839152e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3679
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
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: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.402e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.617e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.011e1

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.83885e6

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
all individuals: 4439
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 3.402e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.83885e6

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.011e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.617e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.837548e6

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.557e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

MQ
type: SiteQuality
SIO_000300: 6.055e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.557093425605536e-3
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.245e0

QD
type: SiteQuality
SIO_000300: 1.123e1

DP
type: SiteQuality
SIO_000300: 1.835552e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.821e0

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.834639e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3660
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 1
allele frequency: 1.005429318318922e-4
allele num: 9946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65904
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 4.286e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.947e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 1.790777e6

GenotypeQuality
all individuals: 686
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.882981306142268e-4
allele num: 65904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.6014e1

VQSLOD
type: SiteQuality
SIO_000300: -1.341e0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

DP
type: SiteQuality
SIO_000300: 1.789124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 10068
bin: 9.75e1
variant carriers: 3

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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4373
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variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.937233630375823e-4
allele num: 15486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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: 9916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65808
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.781149e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

QD
type: SiteQuality
SIO_000300: 6.75e0

VQSLOD
type: SiteQuality
SIO_000300: -8.905999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3029
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GenotypeQuality
all individuals: 2503
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.472222222222222e-4
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.831281586108592e-4
allele num: 15434
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.082725060827251e-4
allele num: 9864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 159
allele frequency: 2.418545222232363e-3
allele num: 65742
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.773787e6

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 5.061e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 3659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
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variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 115
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535862386730149e-5
allele num: 65110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.73656e6

FS
type: SiteQuality
SIO_000300: 3.591e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
all individuals: 2580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8281
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65758
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.274e0

DP
type: SiteQuality
SIO_000300: 2.173481e6

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.596e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1479
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variant carriers: 0

GenotypeQuality
all individuals: 10505
bin: 6.75e1
variant carriers: 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: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.0755500207555e-4
allele num: 9636
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 1.733e0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

DP
type: SiteQuality
SIO_000300: 2.173793e6

GenotypeQuality
all individuals: 1475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 751
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variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65754
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.667e0

DP
type: SiteQuality
SIO_000300: 2.175642e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.184e0

FS
type: SiteQuality
SIO_000300: 1.145e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
all individuals: 32305
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variant carriers: 0

GenotypeQuality
all individuals: 896
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variant carriers: 0

GenotypeQuality
all individuals: 10519
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65754
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 3.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 2.175991e6

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 32318
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variant carriers: 0

GenotypeQuality
all individuals: 1473
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 10517
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 8265
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65762
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.636363636363636e-4
allele num: 16500
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 2.176163e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

GenotypeQuality
all individuals: 896
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10521
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.036914143508917e-4
allele num: 9644
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

FS
type: SiteQuality
SIO_000300: 8.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.176709e6

QD
type: SiteQuality
SIO_000300: 1.395e1