2-71891573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71891573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71891573
    reference: chr 2
allele count: 1
allele frequency: 8.3558942478024e-6
allele num: 119676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5081+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1942+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5060+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5174+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5111+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5150+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5171+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5108+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5057+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5123+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5153+5G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5120+5G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5174+5G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-71891579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71891579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71891579
    reference: chr 2
allele count: 2
allele frequency: 1.679825298168991e-5
allele num: 119060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5171+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5153+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5057+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5174+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5120+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5150+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5081+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5060+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1942+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5111+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5108+11G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5123+11G>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-71891581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71891581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71891581
    reference: chr 2
allele count: 1
allele frequency: 8.423038695439767e-6
allele num: 118722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5081+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5111+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5171+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5150+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5174+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5057+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5153+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5060+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5123+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5108+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5120+13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1942+13G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-71891582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71891582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71891582
    reference: chr 2
allele count: 2
allele frequency: 1.685743665818176e-5
allele num: 118642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5057+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5153+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5174+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5171+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5120+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5081+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5111+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5108+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5060+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5123+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1942+14G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5150+14G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-71891594-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71891594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71891594
    reference: chr 2
allele count: 2
allele frequency: 1.708934308565179e-5
allele num: 117032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5123+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5060+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5081+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5111+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5174+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1942+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5153+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5057+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5150+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5108+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5120+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5171+26G>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-71891594-GCTTCTCTGACAACACACCACCCCTGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71891594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71891568
    reference: chr 2
allele count: 3
allele frequency: 2.563401462847768e-5
allele num: 117032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: GCTTCTCTGACAACACACCACCCCTGT
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-71892245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892245
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-47T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-47T>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-71892249-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892249
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892249
    reference: chr 2
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-43T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-43T>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

2-71892259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892259
    reference: chr 2
allele count: 7
allele frequency: 5.771577454569441e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-33G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-33G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-71892261-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892261
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-31A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-31A>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-71892262-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892262
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892262
    reference: chr 2
allele count: 5
allele frequency: 4.122011541632317e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-30T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-30T>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-71892266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892266
    reference: chr 2
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-26A>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-71892279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892279
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892279
    reference: chr 2
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-13G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-13G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-71892281-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892281
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892281
    reference: chr 2
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-11T>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-11T>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-71892285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892285
    reference: chr 2
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121-7T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124-7T>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5175-7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-71892292-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892292
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5154C>A
  hgvsp: ENST00000409651.1:c.5154C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5175C>A
  hgvsp: ENST00000410020.3:c.5175C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5058C>A
  hgvsp: ENST00000258104.3:c.5058C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5124C>A
  hgvsp: ENST00000409366.1:c.5124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5172C>A
  hgvsp: ENST00000409582.3:c.5172C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5109C>A
  hgvsp: ENST00000409762.1:c.5109C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5112C>A
  hgvsp: ENST00000410041.1:c.5112C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5082C>A
  hgvsp: ENST00000409744.1:c.5082C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5061C>A
  hgvsp: ENST00000394120.2:c.5061C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1943C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5121C>A
  hgvsp: ENST00000429174.2:c.5121C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5151C>A
  hgvsp: ENST00000413539.2:c.5151C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5175C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-71892297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892297
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5159G>C
  hgvsp: ENSP00000386683.1:p.Gly1720Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5180G>C
  hgvsp: ENSP00000386881.3:p.Gly1727Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5177G>C
  hgvsp: ENSP00000386547.3:p.Gly1726Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5063G>C
  hgvsp: ENSP00000258104.3:p.Gly1688Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1948G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5126G>C
  hgvsp: ENSP00000398305.2:p.Gly1709Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5156G>C
  hgvsp: ENSP00000407046.2:p.Gly1719Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5117G>C
  hgvsp: ENSP00000386617.1:p.Gly1706Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5114G>C
  hgvsp: ENSP00000387137.1:p.Gly1705Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5087G>C
  hgvsp: ENSP00000386285.1:p.Gly1696Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5066G>C
  hgvsp: ENSP00000377678.2:p.Gly1689Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5129G>C
  hgvsp: ENSP00000386512.1:p.Gly1710Ala
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly1727Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

2-71892300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892300
    reference: chr 2
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5066C>T
  hgvsp: ENSP00000258104.3:p.Pro1689Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5069C>T
  hgvsp: ENSP00000377678.2:p.Pro1690Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5183C>T
  hgvsp: ENSP00000386881.3:p.Pro1728Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5117C>T
  hgvsp: ENSP00000387137.1:p.Pro1706Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5120C>T
  hgvsp: ENSP00000386617.1:p.Pro1707Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5162C>T
  hgvsp: ENSP00000386683.1:p.Pro1721Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5132C>T
  hgvsp: ENSP00000386512.1:p.Pro1711Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5129C>T
  hgvsp: ENSP00000398305.2:p.Pro1710Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5180C>T
  hgvsp: ENSP00000386547.3:p.Pro1727Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1951C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5159C>T
  hgvsp: ENSP00000407046.2:p.Pro1720Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5090C>T
  hgvsp: ENSP00000386285.1:p.Pro1697Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1728Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-71892301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892301
    reference: chr 2
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5091G>A
  hgvsp: ENST00000409744.1:c.5091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5181G>A
  hgvsp: ENST00000409582.3:c.5181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5130G>A
  hgvsp: ENST00000429174.2:c.5130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5184G>A
  hgvsp: ENST00000410020.3:c.5184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5121G>A
  hgvsp: ENST00000410041.1:c.5121G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5133G>A
  hgvsp: ENST00000409366.1:c.5133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5067G>A
  hgvsp: ENST00000258104.3:c.5067G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5163G>A
  hgvsp: ENST00000409651.1:c.5163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5070G>A
  hgvsp: ENST00000394120.2:c.5070G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5118G>A
  hgvsp: ENST00000409762.1:c.5118G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1952G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5160G>A
  hgvsp: ENST00000413539.2:c.5160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1728Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

2-71892303-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892303
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5072A>G
  hgvsp: ENSP00000377678.2:p.Asn1691Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5120A>G
  hgvsp: ENSP00000387137.1:p.Asn1707Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5162A>G
  hgvsp: ENSP00000407046.2:p.Asn1721Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1954A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5069A>G
  hgvsp: ENSP00000258104.3:p.Asn1690Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5123A>G
  hgvsp: ENSP00000386617.1:p.Asn1708Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5135A>G
  hgvsp: ENSP00000386512.1:p.Asn1712Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5132A>G
  hgvsp: ENSP00000398305.2:p.Asn1711Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5093A>G
  hgvsp: ENSP00000386285.1:p.Asn1698Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5186A>G
  hgvsp: ENSP00000386881.3:p.Asn1729Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5183A>G
  hgvsp: ENSP00000386547.3:p.Asn1728Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5165A>G
  hgvsp: ENSP00000386683.1:p.Asn1722Ser
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1729Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-71892312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892312
    reference: chr 2
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5144G>A
  hgvsp: ENSP00000386512.1:p.Arg1715Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5195G>A
  hgvsp: ENSP00000386881.3:p.Arg1732Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5171G>A
  hgvsp: ENSP00000407046.2:p.Arg1724Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5129G>A
  hgvsp: ENSP00000387137.1:p.Arg1710Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5192G>A
  hgvsp: ENSP00000386547.3:p.Arg1731Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5102G>A
  hgvsp: ENSP00000386285.1:p.Arg1701Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1963G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5078G>A
  hgvsp: ENSP00000258104.3:p.Arg1693Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5081G>A
  hgvsp: ENSP00000377678.2:p.Arg1694Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5174G>A
  hgvsp: ENSP00000386683.1:p.Arg1725Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5141G>A
  hgvsp: ENSP00000398305.2:p.Arg1714Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5132G>A
  hgvsp: ENSP00000386617.1:p.Arg1711Gln
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1732Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-71892319-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892319
    reference: chr 2
allele count: 4
allele frequency: 3.300602359930687e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5109G>T
  hgvsp: ENSP00000386285.1:p.Gln1703His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5088G>T
  hgvsp: ENSP00000377678.2:p.Gln1696His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5136G>T
  hgvsp: ENSP00000387137.1:p.Gln1712His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5202G>T
  hgvsp: ENSP00000386881.3:p.Gln1734His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5199G>T
  hgvsp: ENSP00000386547.3:p.Gln1733His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5085G>T
  hgvsp: ENSP00000258104.3:p.Gln1695His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5178G>T
  hgvsp: ENSP00000407046.2:p.Gln1726His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5139G>T
  hgvsp: ENSP00000386617.1:p.Gln1713His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1970G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5151G>T
  hgvsp: ENSP00000386512.1:p.Gln1717His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5148G>T
  hgvsp: ENSP00000398305.2:p.Gln1716His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5181G>T
  hgvsp: ENSP00000386683.1:p.Gln1727His
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1734His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-71892323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892323
    reference: chr 2
allele count: 2
allele frequency: 1.649675014022238e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5206C>T
  hgvsp: ENSP00000386881.3:p.Arg1736Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5185C>T
  hgvsp: ENSP00000386683.1:p.Arg1729Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5143C>T
  hgvsp: ENSP00000386617.1:p.Arg1715Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5155C>T
  hgvsp: ENSP00000386512.1:p.Arg1719Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1974C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5152C>T
  hgvsp: ENSP00000398305.2:p.Arg1718Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5203C>T
  hgvsp: ENSP00000386547.3:p.Arg1735Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5113C>T
  hgvsp: ENSP00000386285.1:p.Arg1705Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5089C>T
  hgvsp: ENSP00000258104.3:p.Arg1697Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5140C>T
  hgvsp: ENSP00000387137.1:p.Arg1714Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5182C>T
  hgvsp: ENSP00000407046.2:p.Arg1728Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5092C>T
  hgvsp: ENSP00000377678.2:p.Arg1698Cys
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1736Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

2-71892324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892324
    reference: chr 2
allele count: 4
allele frequency: 3.309066843150232e-5
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5153G>A
  hgvsp: ENSP00000398305.2:p.Arg1718His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5207G>A
  hgvsp: ENSP00000386881.3:p.Arg1736His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5141G>A
  hgvsp: ENSP00000387137.1:p.Arg1714His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5090G>A
  hgvsp: ENSP00000258104.3:p.Arg1697His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5186G>A
  hgvsp: ENSP00000386683.1:p.Arg1729His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5183G>A
  hgvsp: ENSP00000407046.2:p.Arg1728His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5144G>A
  hgvsp: ENSP00000386617.1:p.Arg1715His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5114G>A
  hgvsp: ENSP00000386285.1:p.Arg1705His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5093G>A
  hgvsp: ENSP00000377678.2:p.Arg1698His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5156G>A
  hgvsp: ENSP00000386512.1:p.Arg1719His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5204G>A
  hgvsp: ENSP00000386547.3:p.Arg1735His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1975G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1736His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-71892325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892325
    reference: chr 2
allele count: 3
allele frequency: 2.473981956424931e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1976C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5091C>T
  hgvsp: ENST00000258104.3:c.5091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5094C>T
  hgvsp: ENST00000394120.2:c.5094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5157C>T
  hgvsp: ENST00000409366.1:c.5157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5187C>T
  hgvsp: ENST00000409651.1:c.5187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5205C>T
  hgvsp: ENST00000409582.3:c.5205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5142C>T
  hgvsp: ENST00000409762.1:c.5142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5208C>T
  hgvsp: ENST00000410020.3:c.5208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5184C>T
  hgvsp: ENST00000413539.2:c.5184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5115C>T
  hgvsp: ENST00000409744.1:c.5115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5145C>T
  hgvsp: ENST00000410041.1:c.5145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5154C>T
  hgvsp: ENST00000429174.2:c.5154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1736Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-71892326-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892326
    reference: chr 2
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5143C>A
  hgvsp: ENSP00000387137.1:p.Pro1715Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5185C>A
  hgvsp: ENSP00000407046.2:p.Pro1729Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5206C>A
  hgvsp: ENSP00000386547.3:p.Pro1736Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5146C>A
  hgvsp: ENSP00000386617.1:p.Pro1716Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5158C>A
  hgvsp: ENSP00000386512.1:p.Pro1720Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5188C>A
  hgvsp: ENSP00000386683.1:p.Pro1730Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5095C>A
  hgvsp: ENSP00000377678.2:p.Pro1699Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5209C>A
  hgvsp: ENSP00000386881.3:p.Pro1737Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5092C>A
  hgvsp: ENSP00000258104.3:p.Pro1698Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5155C>A
  hgvsp: ENSP00000398305.2:p.Pro1719Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1977C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5116C>A
  hgvsp: ENSP00000386285.1:p.Pro1706Thr
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1737Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-71892327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892327
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5147C>G
  hgvsp: ENSP00000386617.1:p.Pro1716Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5207C>G
  hgvsp: ENSP00000386547.3:p.Pro1736Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5144C>G
  hgvsp: ENSP00000387137.1:p.Pro1715Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5156C>G
  hgvsp: ENSP00000398305.2:p.Pro1719Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5186C>G
  hgvsp: ENSP00000407046.2:p.Pro1729Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5159C>G
  hgvsp: ENSP00000386512.1:p.Pro1720Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5096C>G
  hgvsp: ENSP00000377678.2:p.Pro1699Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5189C>G
  hgvsp: ENSP00000386683.1:p.Pro1730Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5117C>G
  hgvsp: ENSP00000386285.1:p.Pro1706Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5093C>G
  hgvsp: ENSP00000258104.3:p.Pro1698Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5210C>G
  hgvsp: ENSP00000386881.3:p.Pro1737Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1978C>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1737Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-71892333-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892333
    reference: chr 2
allele count: 7
allele frequency: 5.847757802579697e-5
allele num: 119704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5195A>T
  hgvsp: ENSP00000386683.1:p.Gln1732Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5153A>T
  hgvsp: ENSP00000386617.1:p.Gln1718Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5216A>T
  hgvsp: ENSP00000386881.3:p.Gln1739Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5213A>T
  hgvsp: ENSP00000386547.3:p.Gln1738Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5165A>T
  hgvsp: ENSP00000386512.1:p.Gln1722Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5099A>T
  hgvsp: ENSP00000258104.3:p.Gln1700Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5123A>T
  hgvsp: ENSP00000386285.1:p.Gln1708Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5162A>T
  hgvsp: ENSP00000398305.2:p.Gln1721Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5150A>T
  hgvsp: ENSP00000387137.1:p.Gln1717Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5192A>T
  hgvsp: ENSP00000407046.2:p.Gln1731Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1984A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5102A>T
  hgvsp: ENSP00000377678.2:p.Gln1701Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1739Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-71892341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892341
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5161C>T
  hgvsp: ENSP00000386617.1:p.His1721Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5224C>T
  hgvsp: ENSP00000386881.3:p.His1742Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5110C>T
  hgvsp: ENSP00000377678.2:p.His1704Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5221C>T
  hgvsp: ENSP00000386547.3:p.His1741Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5170C>T
  hgvsp: ENSP00000398305.2:p.His1724Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5131C>T
  hgvsp: ENSP00000386285.1:p.His1711Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5173C>T
  hgvsp: ENSP00000386512.1:p.His1725Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5200C>T
  hgvsp: ENSP00000407046.2:p.His1734Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5203C>T
  hgvsp: ENSP00000386683.1:p.His1735Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5107C>T
  hgvsp: ENSP00000258104.3:p.His1703Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5158C>T
  hgvsp: ENSP00000387137.1:p.His1720Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1992C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1742Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-71892342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892342
    reference: chr 2
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5159A>G
  hgvsp: ENSP00000387137.1:p.His1720Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5162A>G
  hgvsp: ENSP00000386617.1:p.His1721Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5132A>G
  hgvsp: ENSP00000386285.1:p.His1711Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5222A>G
  hgvsp: ENSP00000386547.3:p.His1741Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5204A>G
  hgvsp: ENSP00000386683.1:p.His1735Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5225A>G
  hgvsp: ENSP00000386881.3:p.His1742Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5201A>G
  hgvsp: ENSP00000407046.2:p.His1734Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5174A>G
  hgvsp: ENSP00000386512.1:p.His1725Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5108A>G
  hgvsp: ENSP00000258104.3:p.His1703Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1993A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5171A>G
  hgvsp: ENSP00000398305.2:p.His1724Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5111A>G
  hgvsp: ENSP00000377678.2:p.His1704Arg
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1742Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-71892344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892344
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892344
    reference: chr 2
allele count: 12
allele frequency: 9.887610823637981e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5206C>T
  hgvsp: ENSP00000386683.1:p.Leu1736Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5224C>T
  hgvsp: ENSP00000386547.3:p.Leu1742Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5164C>T
  hgvsp: ENSP00000386617.1:p.Leu1722Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5176C>T
  hgvsp: ENSP00000386512.1:p.Leu1726Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.1995C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5227C>T
  hgvsp: ENSP00000386881.3:p.Leu1743Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5203C>T
  hgvsp: ENSP00000407046.2:p.Leu1735Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5134C>T
  hgvsp: ENSP00000386285.1:p.Leu1712Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5110C>T
  hgvsp: ENSP00000258104.3:p.Leu1704Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5113C>T
  hgvsp: ENSP00000377678.2:p.Leu1705Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5173C>T
  hgvsp: ENSP00000398305.2:p.Leu1725Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5161C>T
  hgvsp: ENSP00000387137.1:p.Leu1721Phe
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1743Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-71892351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892351
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5210G>A
  hgvsp: ENSP00000407046.2:p.Cys1737Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5117G>A
  hgvsp: ENSP00000258104.3:p.Cys1706Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5234G>A
  hgvsp: ENSP00000386881.3:p.Cys1745Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2002G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5231G>A
  hgvsp: ENSP00000386547.3:p.Cys1744Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5168G>A
  hgvsp: ENSP00000387137.1:p.Cys1723Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5213G>A
  hgvsp: ENSP00000386683.1:p.Cys1738Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5120G>A
  hgvsp: ENSP00000377678.2:p.Cys1707Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5180G>A
  hgvsp: ENSP00000398305.2:p.Cys1727Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5141G>A
  hgvsp: ENSP00000386285.1:p.Cys1714Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5171G>A
  hgvsp: ENSP00000386617.1:p.Cys1724Tyr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5183G>A
  hgvsp: ENSP00000386512.1:p.Cys1728Tyr
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1745Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-71892353-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892353
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892353
    reference: chr 2
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5182C>G
  hgvsp: ENSP00000398305.2:p.Gln1728Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5233C>G
  hgvsp: ENSP00000386547.3:p.Gln1745Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5119C>G
  hgvsp: ENSP00000258104.3:p.Gln1707Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5143C>G
  hgvsp: ENSP00000386285.1:p.Gln1715Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2004C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5215C>G
  hgvsp: ENSP00000386683.1:p.Gln1739Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5236C>G
  hgvsp: ENSP00000386881.3:p.Gln1746Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5170C>G
  hgvsp: ENSP00000387137.1:p.Gln1724Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5212C>G
  hgvsp: ENSP00000407046.2:p.Gln1738Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5185C>G
  hgvsp: ENSP00000386512.1:p.Gln1729Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5122C>G
  hgvsp: ENSP00000377678.2:p.Gln1708Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5173C>G
  hgvsp: ENSP00000386617.1:p.Gln1725Glu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1746Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-71892355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892355
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892355
    reference: chr 2
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5238G>A
  hgvsp: ENST00000410020.3:c.5238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5184G>A
  hgvsp: ENST00000429174.2:c.5184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5235G>A
  hgvsp: ENST00000409582.3:c.5235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5175G>A
  hgvsp: ENST00000410041.1:c.5175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5214G>A
  hgvsp: ENST00000413539.2:c.5214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5121G>A
  hgvsp: ENST00000258104.3:c.5121G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5145G>A
  hgvsp: ENST00000409744.1:c.5145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2006G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5217G>A
  hgvsp: ENST00000409651.1:c.5217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5172G>A
  hgvsp: ENST00000409762.1:c.5172G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5187G>A
  hgvsp: ENST00000409366.1:c.5187G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5124G>A
  hgvsp: ENST00000394120.2:c.5124G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1746Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS

2-71892360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892360
    reference: chr 2
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5126A>G
  hgvsp: ENSP00000258104.3:p.His1709Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5150A>G
  hgvsp: ENSP00000386285.1:p.His1717Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5219A>G
  hgvsp: ENSP00000407046.2:p.His1740Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5189A>G
  hgvsp: ENSP00000398305.2:p.His1730Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5222A>G
  hgvsp: ENSP00000386683.1:p.His1741Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5243A>G
  hgvsp: ENSP00000386881.3:p.His1748Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5180A>G
  hgvsp: ENSP00000386617.1:p.His1727Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5192A>G
  hgvsp: ENSP00000386512.1:p.His1731Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5129A>G
  hgvsp: ENSP00000377678.2:p.His1710Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5240A>G
  hgvsp: ENSP00000386547.3:p.His1747Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5177A>G
  hgvsp: ENSP00000387137.1:p.His1726Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2011A>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1748Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-71892364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892364
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5181A>G
  hgvsp: ENST00000409762.1:c.5181A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5184A>G
  hgvsp: ENST00000410041.1:c.5184A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5196A>G
  hgvsp: ENST00000409366.1:c.5196A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5226A>G
  hgvsp: ENST00000409651.1:c.5226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5223A>G
  hgvsp: ENST00000413539.2:c.5223A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5154A>G
  hgvsp: ENST00000409744.1:c.5154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5130A>G
  hgvsp: ENST00000258104.3:c.5130A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5193A>G
  hgvsp: ENST00000429174.2:c.5193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5244A>G
  hgvsp: ENST00000409582.3:c.5244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5133A>G
  hgvsp: ENST00000394120.2:c.5133A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2015A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5247A>G
  hgvsp: ENST00000410020.3:c.5247A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1749Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-71892372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892372
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5201C>T
  hgvsp: ENSP00000398305.2:p.Ala1734Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5252C>T
  hgvsp: ENSP00000386547.3:p.Ala1751Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5234C>T
  hgvsp: ENSP00000386683.1:p.Ala1745Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5192C>T
  hgvsp: ENSP00000386617.1:p.Ala1731Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5162C>T
  hgvsp: ENSP00000386285.1:p.Ala1721Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5231C>T
  hgvsp: ENSP00000407046.2:p.Ala1744Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5141C>T
  hgvsp: ENSP00000377678.2:p.Ala1714Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5189C>T
  hgvsp: ENSP00000387137.1:p.Ala1730Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5204C>T
  hgvsp: ENSP00000386512.1:p.Ala1735Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5138C>T
  hgvsp: ENSP00000258104.3:p.Ala1713Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5255C>T
  hgvsp: ENSP00000386881.3:p.Ala1752Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2023C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1752Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-71892374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892374
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892374
    reference: chr 2
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5203C>T
  hgvsp: ENSP00000398305.2:p.Pro1735Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5233C>T
  hgvsp: ENSP00000407046.2:p.Pro1745Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5191C>T
  hgvsp: ENSP00000387137.1:p.Pro1731Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5194C>T
  hgvsp: ENSP00000386617.1:p.Pro1732Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5164C>T
  hgvsp: ENSP00000386285.1:p.Pro1722Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5254C>T
  hgvsp: ENSP00000386547.3:p.Pro1752Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5143C>T
  hgvsp: ENSP00000377678.2:p.Pro1715Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5206C>T
  hgvsp: ENSP00000386512.1:p.Pro1736Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5140C>T
  hgvsp: ENSP00000258104.3:p.Pro1714Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5257C>T
  hgvsp: ENSP00000386881.3:p.Pro1753Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5236C>T
  hgvsp: ENSP00000386683.1:p.Pro1746Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2025C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1753Ser
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-71892375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892375
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5195C>T
  hgvsp: ENSP00000386617.1:p.Pro1732Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5204C>T
  hgvsp: ENSP00000398305.2:p.Pro1735Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2026C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5258C>T
  hgvsp: ENSP00000386881.3:p.Pro1753Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5192C>T
  hgvsp: ENSP00000387137.1:p.Pro1731Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5234C>T
  hgvsp: ENSP00000407046.2:p.Pro1745Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5165C>T
  hgvsp: ENSP00000386285.1:p.Pro1722Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5144C>T
  hgvsp: ENSP00000377678.2:p.Pro1715Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5255C>T
  hgvsp: ENSP00000386547.3:p.Pro1752Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5141C>T
  hgvsp: ENSP00000258104.3:p.Pro1714Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5237C>T
  hgvsp: ENSP00000386683.1:p.Pro1746Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5207C>T
  hgvsp: ENSP00000386512.1:p.Pro1736Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro1753Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-71892381-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892381
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5171A>T
  hgvsp: ENSP00000386285.1:p.Tyr1724Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5147A>T
  hgvsp: ENSP00000258104.3:p.Tyr1716Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5264A>T
  hgvsp: ENSP00000386881.3:p.Tyr1755Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5210A>T
  hgvsp: ENSP00000398305.2:p.Tyr1737Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5198A>T
  hgvsp: ENSP00000387137.1:p.Tyr1733Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5213A>T
  hgvsp: ENSP00000386512.1:p.Tyr1738Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5240A>T
  hgvsp: ENSP00000407046.2:p.Tyr1747Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5150A>T
  hgvsp: ENSP00000377678.2:p.Tyr1717Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5261A>T
  hgvsp: ENSP00000386547.3:p.Tyr1754Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5243A>T
  hgvsp: ENSP00000386683.1:p.Tyr1748Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5201A>T
  hgvsp: ENSP00000386617.1:p.Tyr1734Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2032A>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1755Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-71892383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892383
    reference: chr 2
allele count: 59
allele frequency: 4.85988698703481e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5149C>T
  hgvsp: ENSP00000258104.3:p.Arg1717Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5152C>T
  hgvsp: ENSP00000377678.2:p.Arg1718Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5215C>T
  hgvsp: ENSP00000386512.1:p.Arg1739Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5200C>T
  hgvsp: ENSP00000387137.1:p.Arg1734Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5242C>T
  hgvsp: ENSP00000407046.2:p.Arg1748Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5173C>T
  hgvsp: ENSP00000386285.1:p.Arg1725Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5245C>T
  hgvsp: ENSP00000386683.1:p.Arg1749Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5212C>T
  hgvsp: ENSP00000398305.2:p.Arg1738Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5263C>T
  hgvsp: ENSP00000386547.3:p.Arg1755Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5266C>T
  hgvsp: ENSP00000386881.3:p.Arg1756Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5203C>T
  hgvsp: ENSP00000386617.1:p.Arg1735Trp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2034C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1756Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-71892386-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892386
    reference: chr 2
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5155A>C
  hgvsp: ENSP00000377678.2:p.Thr1719Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5218A>C
  hgvsp: ENSP00000386512.1:p.Thr1740Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5176A>C
  hgvsp: ENSP00000386285.1:p.Thr1726Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5206A>C
  hgvsp: ENSP00000386617.1:p.Thr1736Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5152A>C
  hgvsp: ENSP00000258104.3:p.Thr1718Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5269A>C
  hgvsp: ENSP00000386881.3:p.Thr1757Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5245A>C
  hgvsp: ENSP00000407046.2:p.Thr1749Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5266A>C
  hgvsp: ENSP00000386547.3:p.Thr1756Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2037A>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5203A>C
  hgvsp: ENSP00000387137.1:p.Thr1735Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5248A>C
  hgvsp: ENSP00000386683.1:p.Thr1750Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5215A>C
  hgvsp: ENSP00000398305.2:p.Thr1739Pro
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Thr1757Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-71892392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892392
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892392
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5158C>T
  hgvsp: ENSP00000258104.3:p.Arg1720Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5212C>T
  hgvsp: ENSP00000386617.1:p.Arg1738Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5254C>T
  hgvsp: ENSP00000386683.1:p.Arg1752Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5182C>T
  hgvsp: ENSP00000386285.1:p.Arg1728Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2043C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5272C>T
  hgvsp: ENSP00000386547.3:p.Arg1758Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5275C>T
  hgvsp: ENSP00000386881.3:p.Arg1759Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5221C>T
  hgvsp: ENSP00000398305.2:p.Arg1741Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5161C>T
  hgvsp: ENSP00000377678.2:p.Arg1721Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5224C>T
  hgvsp: ENSP00000386512.1:p.Arg1742Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5251C>T
  hgvsp: ENSP00000407046.2:p.Arg1751Cys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5209C>T
  hgvsp: ENSP00000387137.1:p.Arg1737Cys
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1759Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-71892393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892393
    reference: chr 2
allele count: 8
allele frequency: 6.589894396942289e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5183G>A
  hgvsp: ENSP00000386285.1:p.Arg1728His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5252G>A
  hgvsp: ENSP00000407046.2:p.Arg1751His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5273G>A
  hgvsp: ENSP00000386547.3:p.Arg1758His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5210G>A
  hgvsp: ENSP00000387137.1:p.Arg1737His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5213G>A
  hgvsp: ENSP00000386617.1:p.Arg1738His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5222G>A
  hgvsp: ENSP00000398305.2:p.Arg1741His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5159G>A
  hgvsp: ENSP00000258104.3:p.Arg1720His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2044G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5276G>A
  hgvsp: ENSP00000386881.3:p.Arg1759His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5225G>A
  hgvsp: ENSP00000386512.1:p.Arg1742His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5255G>A
  hgvsp: ENSP00000386683.1:p.Arg1752His
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5162G>A
  hgvsp: ENSP00000377678.2:p.Arg1721His
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1759His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-71892404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892404
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892404
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5224C>T
  hgvsp: ENSP00000386617.1:p.Gln1742Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5233C>T
  hgvsp: ENSP00000398305.2:p.Gln1745Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5284C>T
  hgvsp: ENSP00000386547.3:p.Gln1762Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5236C>T
  hgvsp: ENSP00000386512.1:p.Gln1746Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5173C>T
  hgvsp: ENSP00000377678.2:p.Gln1725Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5287C>T
  hgvsp: ENSP00000386881.3:p.Gln1763Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5221C>T
  hgvsp: ENSP00000387137.1:p.Gln1741Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5194C>T
  hgvsp: ENSP00000386285.1:p.Gln1732Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2055C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5266C>T
  hgvsp: ENSP00000386683.1:p.Gln1756Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5170C>T
  hgvsp: ENSP00000258104.3:p.Gln1724Ter
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5263C>T
  hgvsp: ENSP00000407046.2:p.Gln1755Ter
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1763Ter
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-71892415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892415
    reference: chr 2
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5235A>G
  hgvsp: ENST00000410041.1:c.5235A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5232A>G
  hgvsp: ENST00000409762.1:c.5232A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5274A>G
  hgvsp: ENST00000413539.2:c.5274A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5295A>G
  hgvsp: ENST00000409582.3:c.5295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5205A>G
  hgvsp: ENST00000409744.1:c.5205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5244A>G
  hgvsp: ENST00000429174.2:c.5244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5277A>G
  hgvsp: ENST00000409651.1:c.5277A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5247A>G
  hgvsp: ENST00000409366.1:c.5247A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5181A>G
  hgvsp: ENST00000258104.3:c.5181A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5298A>G
  hgvsp: ENST00000410020.3:c.5298A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5184A>G
  hgvsp: ENST00000394120.2:c.5184A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2066A>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1766Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-71892419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892419
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5209T>C
  hgvsp: ENSP00000386285.1:p.Ser1737Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5185T>C
  hgvsp: ENSP00000258104.3:p.Ser1729Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5236T>C
  hgvsp: ENSP00000387137.1:p.Ser1746Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5299T>C
  hgvsp: ENSP00000386547.3:p.Ser1767Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5281T>C
  hgvsp: ENSP00000386683.1:p.Ser1761Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5251T>C
  hgvsp: ENSP00000386512.1:p.Ser1751Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5188T>C
  hgvsp: ENSP00000377678.2:p.Ser1730Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2070T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5302T>C
  hgvsp: ENSP00000386881.3:p.Ser1768Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5239T>C
  hgvsp: ENSP00000386617.1:p.Ser1747Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5278T>C
  hgvsp: ENSP00000407046.2:p.Ser1760Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5248T>C
  hgvsp: ENSP00000398305.2:p.Ser1750Pro
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1768Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-71892421-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892421
    reference: chr 2
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5238C>A
  hgvsp: ENST00000409762.1:c.5238C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5280C>A
  hgvsp: ENST00000413539.2:c.5280C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5211C>A
  hgvsp: ENST00000409744.1:c.5211C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5253C>A
  hgvsp: ENST00000409366.1:c.5253C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5190C>A
  hgvsp: ENST00000394120.2:c.5190C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5304C>A
  hgvsp: ENST00000410020.3:c.5304C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5301C>A
  hgvsp: ENST00000409582.3:c.5301C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5283C>A
  hgvsp: ENST00000409651.1:c.5283C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2072C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5187C>A
  hgvsp: ENST00000258104.3:c.5187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5250C>A
  hgvsp: ENST00000429174.2:c.5250C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5241C>A
  hgvsp: ENST00000410041.1:c.5241C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1768Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-71892422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892422
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5281A>G
  hgvsp: ENSP00000407046.2:p.Ile1761Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5212A>G
  hgvsp: ENSP00000386285.1:p.Ile1738Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5191A>G
  hgvsp: ENSP00000377678.2:p.Ile1731Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5254A>G
  hgvsp: ENSP00000386512.1:p.Ile1752Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5239A>G
  hgvsp: ENSP00000387137.1:p.Ile1747Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5302A>G
  hgvsp: ENSP00000386547.3:p.Ile1768Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5284A>G
  hgvsp: ENSP00000386683.1:p.Ile1762Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5188A>G
  hgvsp: ENSP00000258104.3:p.Ile1730Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5251A>G
  hgvsp: ENSP00000398305.2:p.Ile1751Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5305A>G
  hgvsp: ENSP00000386881.3:p.Ile1769Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2073A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5242A>G
  hgvsp: ENSP00000386617.1:p.Ile1748Val
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1769Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-71892427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892427
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5244A>G
  hgvsp: ENST00000409762.1:c.5244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5310A>G
  hgvsp: ENST00000410020.3:c.5310A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5289A>G
  hgvsp: ENST00000409651.1:c.5289A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5256A>G
  hgvsp: ENST00000429174.2:c.5256A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5196A>G
  hgvsp: ENST00000394120.2:c.5196A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5247A>G
  hgvsp: ENST00000410041.1:c.5247A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5217A>G
  hgvsp: ENST00000409744.1:c.5217A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5259A>G
  hgvsp: ENST00000409366.1:c.5259A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2078A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5193A>G
  hgvsp: ENST00000258104.3:c.5193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5307A>G
  hgvsp: ENST00000409582.3:c.5307A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5286A>G
  hgvsp: ENST00000413539.2:c.5286A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1770Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

2-71892428-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892428
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892428
    reference: chr 2
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5257G>C
  hgvsp: ENSP00000398305.2:p.Glu1753Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2079G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5194G>C
  hgvsp: ENSP00000258104.3:p.Glu1732Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5197G>C
  hgvsp: ENSP00000377678.2:p.Glu1733Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5311G>C
  hgvsp: ENSP00000386881.3:p.Glu1771Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5308G>C
  hgvsp: ENSP00000386547.3:p.Glu1770Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5260G>C
  hgvsp: ENSP00000386512.1:p.Glu1754Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5287G>C
  hgvsp: ENSP00000407046.2:p.Glu1763Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5218G>C
  hgvsp: ENSP00000386285.1:p.Glu1740Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5245G>C
  hgvsp: ENSP00000387137.1:p.Glu1749Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5248G>C
  hgvsp: ENSP00000386617.1:p.Glu1750Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5290G>C
  hgvsp: ENSP00000386683.1:p.Glu1764Gln
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1771Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-71892431-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892431
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5263A>T
  hgvsp: ENSP00000386512.1:p.Ile1755Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5248A>T
  hgvsp: ENSP00000387137.1:p.Ile1750Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5293A>T
  hgvsp: ENSP00000386683.1:p.Ile1765Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5197A>T
  hgvsp: ENSP00000258104.3:p.Ile1733Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5290A>T
  hgvsp: ENSP00000407046.2:p.Ile1764Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5260A>T
  hgvsp: ENSP00000398305.2:p.Ile1754Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5314A>T
  hgvsp: ENSP00000386881.3:p.Ile1772Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5200A>T
  hgvsp: ENSP00000377678.2:p.Ile1734Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5221A>T
  hgvsp: ENSP00000386285.1:p.Ile1741Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2082A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5311A>T
  hgvsp: ENSP00000386547.3:p.Ile1771Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5251A>T
  hgvsp: ENSP00000386617.1:p.Ile1751Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1772Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-71892435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892435
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+1G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+1G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5317+1G>A
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-71892447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892447
    reference: chr 2
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+13A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+13A>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-71892450-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892449
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+20delC
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+20delC
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: AC
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-71892452-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892452
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+18C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+18C>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-71892466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892466
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+32G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+32G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-71892468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892468
    reference: chr 2
allele count: 80
allele frequency: 6.593696426216537e-4
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+34C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+34C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-71892472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892472
    reference: chr 2
allele count: 8
allele frequency: 6.593913817546405e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+38C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+38C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-71892473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892473
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892473
    reference: chr 2
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+39G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+39G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

2-71892473-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892473
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892473
    reference: chr 2
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+39G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+39G>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-71892476-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71892476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71892476
    reference: chr 2
allele count: 21
allele frequency: 1.731616010026881e-4
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5203+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5266+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5263+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5296+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5251+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5254+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5200+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5314+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5293+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5224+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2085+42G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5317+42G>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-71894456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71894456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71894456
    reference: chr 2
allele count: 1
allele frequency: 8.43540169382866e-6
allele num: 118548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5225-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5318-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5294-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5204-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5264-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5201-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5297-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5252-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2086-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5255-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5315-50T>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5267-50T>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-71894461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71894461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71894461
    reference: chr 2
allele count: 6
allele frequency: 5.061753391374772e-5
allele num: 118536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5204-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5315-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5264-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5225-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5252-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5294-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5267-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5201-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2086-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5318-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5297-45C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5255-45C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-71894462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71894462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71894462
    reference: chr 2
allele count: 2
allele frequency: 1.68713726548792e-5
allele num: 118544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5201-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5252-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5297-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5294-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5255-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5315-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5267-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5318-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5204-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5264-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5225-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2086-44G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-71894471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71894471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71894471
    reference: chr 2
allele count: 2
allele frequency: 1.684182161142549e-5
allele num: 118752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5225-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5255-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5201-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2086-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5267-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5315-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5264-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5297-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5252-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5318-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5204-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5294-35G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-71894480-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71894480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71894480
    reference: chr 2
allele count: 2
allele frequency: 1.68321831341525e-5
allele num: 118820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.5264-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.5318-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.5204-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.5255-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.5252-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.5315-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.5267-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.5201-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.5297-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl transcript: ENST00000479049
  gene symbol: DYSF
  hgvsc: ENST00000479049.2:n.2086-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.5294-26A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.5225-26A>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 744
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7899
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.126700159294204e-5
allele num: 16322
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.583e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

FS
type: SiteQuality
SIO_000300: 2.005e0

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

DP
type: SiteQuality
SIO_000300: 1.833677e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

GenotypeDepth
all individuals: 953
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6185
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
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: 11324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 4.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.795879e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-1

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 6180
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65460
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.950248756218905e-5
allele num: 10050
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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SIO_000300: 5.952e1

ClippingRankSum
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SIO_000300: -1.266e0

VQSLOD
type: SiteQuality
SIO_000300: -5.615e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.771608e6

GenotypeDepth
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.353494939985879e-4
allele num: 8498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.765002e6

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -9.71e-1

MQRankSum
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SIO_000300: 2.44e-1

ClippingRankSum
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FS
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SIO_000300: 2.308e0

ReadPosRankSum
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SIO_000300: 4.27e-1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09626281078738e-5
allele num: 64594
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
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SIO_000300: -5.0e-2

MQRankSum
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FS
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DP
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BaseQRankSum
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SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.794e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

QD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.545e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24363
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09626281078738e-5
allele num: 64594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.794e-1

DP
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SIO_000300: 1.593165e6

MQRankSum
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SIO_000300: -2.261e0

MQ
type: SiteQuality
SIO_000300: 5.545e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 2.15e0

GenotypeDepth
all individuals: 962
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3900
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 5.94e0

DP
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SIO_000300: 2.767894e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
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SIO_000300: -1.07e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 5
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allele num: 6614
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
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South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.500195025353296e-5
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num of homozygotes: 0

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

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

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

Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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MQ
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QD
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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South Asian
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European (Finnish)
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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African
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European (Finnish)
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South Asian
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ClippingRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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VQSLOD
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FS
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QD
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MQRankSum
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MQ
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SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 2.540722e6

GenotypeDepth
all individuals: 11544
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 950
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variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23422
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.74e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.365e0

DP
type: SiteQuality
SIO_000300: 2.540719e6

QD
type: SiteQuality
SIO_000300: 2.413e1

FS
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.369e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.018e0

GenotypeDepth
all individuals: 2502
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7941
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variant carriers: 0

GenotypeDepth
all individuals: 574
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variant carriers: 0

GenotypeDepth
all individuals: 10063
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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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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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23421
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3215
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e0

DP
type: SiteQuality
SIO_000300: 2.540559e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.487e0

FS
type: SiteQuality
SIO_000300: 1.014e0

QD
type: SiteQuality
SIO_000300: 1.523e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e0

GenotypeDepth
all individuals: 5612
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
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variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3218
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4058
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23421
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2732
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variant carriers: 0

GenotypeQuality
all individuals: 5139
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variant carriers: 0

GenotypeQuality
all individuals: 11090
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 6289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4683
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 3.448e0

DP
type: SiteQuality
SIO_000300: 2.540739e6

QD
type: SiteQuality
SIO_000300: 1.255e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

GenotypeDepth
all individuals: 9897
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1564
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variant carriers: 0

GenotypeDepth
all individuals: 10063
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variant carriers: 0

GenotypeDepth
all individuals: 951
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variant carriers: 1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 11102
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variant carriers: 0

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

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 6285
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variant carriers: 0

GenotypeQuality
all individuals: 3213
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 5135
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variant carriers: 0

GenotypeQuality
all individuals: 23431
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 4682
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 50
allele frequency: 7.492657195947971e-4
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.541965e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeDepth
all individuals: 2301
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 706
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 363
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 11117
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 6290
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
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variant carriers: 0

GenotypeQuality
all individuals: 5140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23400
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2732
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variant carriers: 0

GenotypeQuality
all individuals: 4685
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 4057
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.523e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 2.537166e6

BaseQRankSum
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SIO_000300: 4.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

GenotypeDepth
all individuals: 10079
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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: 3

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
all individuals: 4687
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GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

DP
type: SiteQuality
SIO_000300: 2.536944e6

QD
type: SiteQuality
SIO_000300: 1.414e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeDepth
all individuals: 910
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variant carriers: 6

GenotypeDepth
all individuals: 2301
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 11122
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4687
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198789222884886e-4
allele num: 66734
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -2.65e-1

DP
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GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

Other
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

DP
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.954e1

FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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MQRankSum
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SIO_000300: 1.1e-2

QD
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SIO_000300: 1.316e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.08e-1

QD
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.15e0

ReadPosRankSum
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SIO_000300: 9.99e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

East Asian
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South Asian
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European (Finnish)
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Latino
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African
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Other
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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VQSLOD
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DP
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MQRankSum
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66720
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South Asian
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

African
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num of homozygotes: 0

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

Latino
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allele count: 4
allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

African
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allele count: 75
allele frequency: 7.211538461538462e-3
allele num: 10400
num of homozygotes: 1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

QD
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SIO_000300: 1.43e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.73e-1

MQ
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SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.517509e6

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
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SIO_000300: -2.653e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 396
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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: 8

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
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allele count: 7
allele frequency: 6.732063858434314e-4
allele num: 10398
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 7.28e-1

BaseQRankSum
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SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 2.50816e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Latino
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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: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

European (Finnish)
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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: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
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SIO_000300: -3.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 2.507065e6

QD
type: SiteQuality
SIO_000300: 1.417e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
all individuals: 946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 4020
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
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SIO_000300: -3.288e0

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 2.507065e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5757
bin: 6.75e1
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: 21
allele frequency: 2.020396382528382e-3
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.391e1

FS
type: SiteQuality
SIO_000300: 3.136e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
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SIO_000300: -3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 2.500093e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
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: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541307028360049e-5
allele num: 64880
num of homozygotes: 0

Other
type: Population
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MQRankSum
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SIO_000300: -6.65e-1

InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
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SIO_000300: 2.15e0

GenotypeDepth
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variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.163518136152115e-5
allele num: 64898
num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

Latino
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allele frequency: 8.656509695290859e-5
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DP
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.83e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2526
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540927021696253e-5
allele num: 64896
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.816296e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.362e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 1.393e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 12984
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8998
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07919694543663e-5
allele num: 64952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.814684e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.591e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.243e0

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0